Chromosome 4 (human)

Chromosome 4 (human)
	File:Human male karyotpe high resolution - Chromosome 4 cropped.png Human chromosome 4 pair after G-banding. One is from mother, one is from father.
	File:Human male karyotpe high resolution - Chromosome 4.png Chromosome 4 pair; in human male karyogram.
Features
Length (bp)	190,214,555 bp; (GRCh38)
No. of genes	727 (CCDS)
Type	Autosome
Centromere position	Submetacentric; (50.0 Mbp)
Complete gene lists
CCDS	?
HGNC	?
UniProt	?
NCBI	?
External map viewers
Ensembl	Chromosome 4
Entrez	Chromosome 4
NCBI	Chromosome 4
UCSC	Chromosome 4
Full DNA sequences
RefSeq	NC_000004 (FASTA)
GenBank	CM000666 (FASTA)

Chromosome 4 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 4 spans more than 186 million base pairs (the building material of DNA) and represents between 6 and 6.5 percent of the total DNA in cells.

Genomics

The chromosome is ~191 megabases in length. In a 2012 paper, seven hundred and fifty seven protein encoding genes were identified on this chromosome.^[5] Two-hundred and eleven (27.9%) of these coding sequences did not have any experimental evidence at the protein level, in 2012. Two-hundred and seventy one appear to be membrane proteins. Fifty-four have been classified as cancer associated proteins.

Genes

The following are some of the gene count estimates of human chromosome 4. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project (CCDS) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes.^[6]

Estimated by	Protein-coding genes	Non-coding RNA genes	Pseudogenes	Source	Release date
CCDS	727	-	-	^[2]	2016-09-08
HGNC	731	277	633	^[7]	2017-05-12
Ensembl	746	993	727	^[8]	2017-03-29
NCBI	769	934	819	^[9]^[10]^[11]	2017-05-19

The following are some of the genes located on chromosome 4:

AASDH: aminoadipate-semialdehyde dehydrogenase
ACVR1: activin-like kinase 2 (ALK-2)
ACOX3: encoding enzyme Peroxisomal acyl-coenzyme A oxidase 3
AGPAT9: encoding enzyme Glycerol-3-phosphate acyltransferase 3 a.k.a. 1-acylglycerol-3-phosphate O-acyltransferase 9
ANK2: ankyrin 2, neuronal
APBB2: encoding protein Amyloid beta A4 precursor protein-binding family B member 2
ART3: encoding enzyme Ecto-ADP-ribosyltransferase 3
ASAHL: encoding enzyme N-acylethanolamine-hydrolyzing acid amidase
C4orf18: encoding protein Protein ENED
C4orf21: zinc-finger GRF-type containing 1
CCDC109B: Coiled-coil domain containing 109B
Complement Factor I: Complement Factor I
CRMP1: Collapsin response mediator protein 1, a member of CRMP family
CSN2: Beta-casein
CXCL1: chemokine (C-X-C motif) ligand 1, scyb1
CXCL2: chemokine (C-X-C motif) ligand 2, scyb2
CXCL3: chemokine (C-X-C motif) ligand 3, scyb3
CXCL4: chemokine (C-X-C motif) ligand 4, Platelet factor-4, PF-4, scyb4
CXCL5: chemokine (C-X-C motif) ligand 5, scyb5
CXCL6: chemokine (C-X-C motif) ligand 6, scyb6
CXCL7: chemokine (C-X-C motif) ligand 7, PPBP, scyb7
CXCL8: chemokine (C-X-C motif) ligand 8, interleukin 8 (IL-8), scyb8
CXCL9: chemokine (C-X-C motif) ligand 9, scyb9
CXCL10: chemokine (C-X-C motif) ligand 10, scyb10
CXCL11: chemokine (C-X-C motif) ligand 11, scyb11
CXCL13: chemokine (C-X-C motif) ligand 13, scyb13
CYTL1: Cytokine-like 1
DCUN1D4: Defective in cullin neddylation 1 domain containing 4
DHX15: DEAH-box helicase 15
DKK2: Dickkopf-related protein 2
DUX4: Thought to be inactive but 2010 research shows a key role in FSHD^[12]
ELMOD2: Elmo domain-containing 2
EMCN: Endomucin
EVC: Ellis van Creveld syndrome
EVC2: Ellis van Creveld syndrome 2 (limbin)
Factor XI: Mutations cause Haemophilia C
FAM47E-STBD1: FAM47E-STBD1 readthrough
FAM114A1: Family with sequence similarity 114, member A1
FAM149A: Family with sequence similarity 149, member A
FAM193A: Family with sequence similarity 193, member A
FAM221B: Family with sequence similarity 221, member B
FGF2: Fibroblast growth factor 2 (basic fibroblast growth factor)
FGFR3: fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism, bladder cancer)
FGFRL1: fibroblast growth factor receptor-like 1
FRG1: FSHD region gene 1
GUF1: GUF1 homolog, GTPase
HCL2 (also called RHA or RHC): related to red hair
HTT (Huntingtin): huntingtin protein (Huntington's disease)
IGJ: linker protein for immunoglobulin alpha and mu polypeptides
INTS12: Integrator complex subunit 12
KDR: Kinase insert domain receptor (Vascular endothelial growth factor receptor 2)
KIAA1530: UV stimulated scaffold protein A
LCORL: Ligand dependent nuclear receptor corepressor like
LDB2: LIM domain-binding protein 2
LGI2: Leucine-rich repeat LGI family member 2
LOC100505912 encoding protein Uncharacterized LOC100505912
LSM6: U6 snRNA-associated Sm-like protein
LYAR: Cell growth-regulating nucleolar protein
MAB21L2: Mab-21-like 2
Marcksl1: encoding protein MARCKS-like 1
MAML3: Mastermind-like 3
MFSD7: encoding protein Major facilitator superfamily domain containing 7
MIR1269A: microRNA 1269a
MLF1IP: Centromere protein U
MMAA: methylmalonic aciduria (cobalamin deficiency) cblA type
MTHFD2L: NAD-dependent methylenetetrahydrofolate dehydrogenase 2-like protein
MYL5: Myosin light chain 5
NOA1: encoding protein Nitric oxide associated 1
NUDT6: nudix hydrolase 6
NUDT9: nudix hydrolase 9
OTUD4: OTU domain-containing protein 4
PABPC4L: encoding protein Poly(A) binding protein, cytoplasmic 4-like
PARM1: Prostate androgen-regulated mucin-like protein 1
PHOX2B: codes for a homeodomain transcription factor
PI4K2B: Phosphatidylinositol 4-kinase type 2-beta
PKD2: polycystic kidney disease 2 (autosomal dominant)
PLK4: Serine/threonine-protein kinase PLK4
PSAPL1: encoding protein Prosaposin-like 1 (gene/pseudogene)
QDPR: quinoid dihydropteridine reductase
RBM47: RNA binding motif protein 47
SDAD1: protein SDA1 homolog
SEC24B: Sec24 homolog B
SEC24D: Sec24 homolog D
SEPT11: Septin-11
SLC9B2: solute carrier family 9 member B2
SLC10A4: solute carrier family 10 member 4
SMIM20: encoding protein Small integral membrane protein 20
SNCA: synuclein, alpha (non A4 component of amyloid precursor)
SPATA5: Spermatogenesis-associated protein 5
STATH: gene with protein product
TACC3: Transforming acidic coiled-coil-containing protein 3
TENM3: Teneurin transmembrane protein 3
THAP6: THAP domain-containing protein 6
TMPRSS11D: Transmembrane protease, serine 11D
TNIP2: TNFAIP3-interaction protein 2
UCHL1: ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
UGT8: UDP glycosyltransferase 8
UNC5C: netrin receptor UNC5C
USP38: encoding protein Ubiquitin specific peptidase 38
USP53: ubiquitin specific peptidase 53
UTP3: small subunit processome component
WFS1: Wolfram syndrome 1 (wolframin)
ZNF621: encoding protein Zinc finger protein 621

Diseases and disorders

The following are some of the diseases related to genes located on chromosome 4:

Cytogenetic band

G-banding ideograms of human chromosome 4

File:Human chromosome 4 ideogram vertical.svg

G-banding ideogram of human chromosome 4 in resolution 850 bphs. Band length in this diagram is proportional to base-pair length. This type of ideogram is generally used in genome browsers (e.g. Ensembl, UCSC Genome Browser).

File:Human chromosome 04 - 400 550 850 bphs.png

G-banding patterns of human chromosome 4 in three different resolutions (400,^[13] 550^[14] and 850^[4]). Band length in this diagram is based on the ideograms from ISCN (2013).^[15] This type of ideogram represents actual relative band length observed under a microscope at the different moments during the mitotic process.^[16]

G-bands of human chromosome 4 in resolution 850 bphs^[17]
Chr.	Arm^[18]	Band^[19]	ISCN start^[20]	ISCN stop^[20]	Basepair start	Basepair stop	Stain^[21]	Density
4	p	16.3	0	220	1	4500000	gneg
4	p	16.2	220	389	7006450000100000000♠4,500,001	7006600000000000000♠6,000,000	gpos	25
4	p	16.1	389	779	7006600000100000000♠6,000,001	7007113000000000000♠11,300,000	gneg
4	p	15.33	779	1066	7007113000010000000♠11,300,001	7007150000000000000♠15,000,000	gpos	50
4	p	15.32	1066	1286	7007150000010000000♠15,000,001	7007177000000000000♠17,700,000	gneg
4	p	15.31	1286	1557	7007177000010000000♠17,700,001	7007213000000000000♠21,300,000	gpos	75
4	p	15.2	1557	1811	7007213000010000000♠21,300,001	7007277000000000000♠27,700,000	gneg
4	p	15.1	1811	2166	7007277000010000000♠27,700,001	7007358000000000000♠35,800,000	gpos	100
4	p	14	2166	2505	7007358000010000000♠35,800,001	7007412000000000000♠41,200,000	gneg
4	p	13	2505	2742	7007412000010000000♠41,200,001	7007446000000000000♠44,600,000	gpos	50
4	p	12	2742	2877	7007446000010000000♠44,600,001	7007482000000000000♠48,200,000	gneg
4	p	11	2877	3046	7007482000010000000♠48,200,001	7007500000000000000♠50,000,000	acen
4	q	11	3046	3249	7007500000010000000♠50,000,001	7007518000000000000♠51,800,000	acen
4	q	12	3249	3571	7007518000010000000♠51,800,001	7007585000000000000♠58,500,000	gneg
4	q	13.1	3571	3910	7007585000010000000♠58,500,001	7007655000000000000♠65,500,000	gpos	100
4	q	13.2	3910	4062	7007655000010000000♠65,500,001	7007694000000000000♠69,400,000	gneg
4	q	13.3	4062	4333	7007694000010000000♠69,400,001	7007753000000000000♠75,300,000	gpos	75
4	q	21.1	4333	4502	7007753000010000000♠75,300,001	7007780000000000000♠78,000,000	gneg
4	q	21.21	4502	4671	7007780000010000000♠78,000,001	7007815000000000000♠81,500,000	gpos	50
4	q	21.22	4671	4739	7007815000010000000♠81,500,001	7007832000000000000♠83,200,000	gneg
4	q	21.23	4739	4874	7007832000010000000♠83,200,001	7007860000000000000♠86,000,000	gpos	25
4	q	21.3	4874	5145	7007860000010000000♠86,000,001	7007871000000000000♠87,100,000	gneg
4	q	22.1	5145	5517	7007871000010000000♠87,100,001	7007928000000000000♠92,800,000	gpos	75
4	q	22.2	5517	5636	7007928000010000000♠92,800,001	7007942000000000000♠94,200,000	gneg
4	q	22.3	5636	5890	7007942000010000000♠94,200,001	7007979000000000000♠97,900,000	gpos	75
4	q	23	5890	6059	7007979000010000000♠97,900,001	7008100100000000000♠100,100,000	gneg
4	q	24	6059	6347	7008100100001000000♠100,100,001	7008106700000000000♠106,700,000	gpos	50
4	q	25	6347	6685	7008106700001000000♠106,700,001	7008113200000000000♠113,200,000	gneg
4	q	26	6685	7040	7008113200001000000♠113,200,001	7008119900000000000♠119,900,000	gpos	75
4	q	27	7040	7277	7008119900001000000♠119,900,001	7008122800000000000♠122,800,000	gneg
4	q	28.1	7277	7565	7008122800001000000♠122,800,001	7008127900000000000♠127,900,000	gpos	50
4	q	28.2	7565	7734	7008127900001000000♠127,900,001	7008130100000000000♠130,100,000	gneg
4	q	28.3	7734	8259	7008130100001000000♠130,100,001	7008138500000000000♠138,500,000	gpos	100
4	q	31.1	8259	8581	7008138500001000000♠138,500,001	7008140600000000000♠140,600,000	gneg
4	q	31.21	8581	8733	7008140600001000000♠140,600,001	7008145900000000000♠145,900,000	gpos	25
4	q	31.22	8733	8851	7008145900001000000♠145,900,001	7008147500000000000♠147,500,000	gneg
4	q	31.23	8851	9004	7008147500001000000♠147,500,001	7008150200000000000♠150,200,000	gpos	25
4	q	31.3	9004	9207	7008150200001000000♠150,200,001	7008154600000000000♠154,600,000	gneg
4	q	32.1	9207	9545	7008154600001000000♠154,600,001	7008160800000000000♠160,800,000	gpos	100
4	q	32.2	9545	9681	7008160800001000000♠160,800,001	7008163600000000000♠163,600,000	gneg
4	q	32.3	9681	9985	7008163600001000000♠163,600,001	7008169200000000000♠169,200,000	gpos	100
4	q	33	9985	10087	7008169200001000000♠169,200,001	7008171000000000000♠171,000,000	gneg
4	q	34.1	10087	10341	7008171000001000000♠171,000,001	7008175400000000000♠175,400,000	gpos	75
4	q	34.2	10341	10408	7008175400001000000♠175,400,001	7008176600000000000♠176,600,000	gneg
4	q	34.3	10408	10628	7008176600001000000♠176,600,001	7008182300000000000♠182,300,000	gpos	100
4	q	35.1	10628	10967	7008182300001000000♠182,300,001	7008186200000000000♠186,200,000	gneg
4	q	35.2	10967	11170	7008186200001000000♠186,200,001	7008190214555000000♠190,214,555	gpos	25

References

Goldfrank D, Schoenberger E, Gilbert F; Schoenberger; Gilbert (2003). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 4". Genet Test. 7 (4): 351–72. doi:10.1089/109065703322783752. PMID 15000816.
Hillier LW, Graves TA, Fulton RS, Fulton LA, Pepin KH, Minx P, Wagner-McPherson C, Layman D, Wylie K, Sekhon M, Becker MC, Fewell GA, Delehaunty KD, Miner TL, Nash WE, Kremitzki C, Oddy L, Du H, Sun H, Bradshaw-Cordum H, Ali J, Carter J, Cordes M, Harris A, Isak A, van Brunt A, Nguyen C, Du F, Courtney L, Kalicki J, Ozersky P, Abbott S, Armstrong J, Belter EA, Caruso L, Cedroni M, Cotton M, Davidson T, Desai A, Elliott G, Erb T, Fronick C, Gaige T, Haakenson W, Haglund K, Holmes A, Harkins R, Kim K, Kruchowski SS, Strong CM, Grewal N, Goyea E, Lou S, Levy A, Martinka S, Mead K, McLellan MD, Meyer R, Randall-Maher J, Tomlinson C, Dauphin-Kohlberg S, Kozlowicz-Reilly A, Shah N, Swearengen-Shahid S, Snider J, Strong JT, Thompson J, Yoakum M, Leonard S, Pearman C, Trani L, Radionenko M, Waligorski JE, Wang C, Rock SM, Tin-Wollam AM, Maupin R, Latreille P, Wendl MC, Yang SP, Pohl C, Wallis JW, Spieth J, Bieri TA, Berkowicz N, Nelson JO, Osborne J, Ding L, Meyer R, Sabo A, Shotland Y, Sinha P, Wohldmann PE, Cook LL, Hickenbotham MT, Eldred J, Williams D, Jones TA, She X, Ciccarelli FD, Izaurralde E, Taylor J, Schmutz J, Myers RM, Cox DR, Huang X, McPherson JD, Mardis ER, Clifton SW, Warren WC, Chinawalla AT, Teddy SR, Marra MA, Ovcharenko I, Furey TS, Miller W, Eichler EE, Pork P, Suyama M, Torrents D, Waterston RH, Wilson RK; Graves; Fulton; Fulton; Pepin; Minx; Wagner-Mcpherson; Layman; Wylie; Sekhon; Becker; Fewell; Delehaunty; Miner; Nash; Kremitzki; Oddy; Du; Sun; Bradshaw-Cordum; Ali; Carter; Cordes; Harris; Isak; Van Brunt; Nguyen; Du; Courtney; et al. (2005). "Generation and annotation of the DNA sequences of human chromosomes 2 and 4". Nature. 434 (7034): 724–31. Bibcode:2005Natur.434..724H. doi:10.1038/nature03466. PMID 15815621.

↑ "Human Genome Assembly GRCh38 - Genome Reference Consortium". National Center for Biotechnology Information. 2013-12-24. Retrieved 2017-03-04.
↑ ^2.0 ^2.1 "Search results - 4[CHR] AND "Homo sapiens"[Organism] AND ("has ccds"[Properties] AND alive[prop]) - Gene". NCBI. CCDS Release 20 for Homo sapiens. 2016-09-08. Retrieved 2017-05-28.
↑ Tom Strachan; Andrew Read (2 April 2010). Human Molecular Genetics. Garland Science. p. 45. ISBN 978-1-136-84407-2.
↑ ^4.0 ^4.1 Genome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3). Last update 2014-06-03. Retrieved 2017-04-26.
↑ Chen LC, Liu MY, Hsiao YC, Choong WK, Wu HY, Hsu WL, Liao PC, Sung TY, Tsai SF, Yu JS, Chen YJ (2012) Decoding the disease-associated proteins encoded in the human chromosome 4. J Proteome Res
↑ Pertea M, Salzberg SL (2010). "Between a chicken and a grape: estimating the number of human genes". Genome Biol. 11 (5): 206. doi:10.1186/gb-2010-11-5-206. PMC 2898077. PMID 20441615.
↑ "Statistics & Downloads for chromosome 4". HUGO Gene Nomenclature Committee. 2017-05-12. Retrieved 2017-05-19.
↑ "Chromosome 4: Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19.
↑ "Search results - 4[CHR] AND "Homo sapiens"[Organism] AND ("genetype protein coding"[Properties] AND alive[prop]) - Gene". NCBI. 2017-05-19. Retrieved 2017-05-20.
↑ "Search results - 4[CHR] AND "Homo sapiens"[Organism] AND ( ("genetype miscrna"[Properties] OR "genetype ncrna"[Properties] OR "genetype rrna"[Properties] OR "genetype trna"[Properties] OR "genetype scrna"[Properties] OR "genetype snrna"[Properties] OR "genetype snorna"[Properties]) NOT "genetype protein coding"[Properties] AND alive[prop]) - Gene". NCBI. 2017-05-19. Retrieved 2017-05-20.
↑ "Search results - 4[CHR] AND "Homo sapiens"[Organism] AND ("genetype pseudo"[Properties] AND alive[prop]) - Gene". NCBI. 2017-05-19. Retrieved 2017-05-20.
↑ Lemmers, Richard; Patrick J. van der Vliet, Rinse Klooster, Sabrina Sacconi, Pilar Camaño, Johannes G. Dauwerse, Lauren Snider, Kirsten R. Straasheijm, Gert Jan van Ommen, George W. Padberg, Daniel G. Miller, Stephen J. Tapscott, Rabi Tawil, Rune R. Frants, and Silvère M. van der Maarel; Klooster, Rinse; Sacconi, Sabrina; Camaño, Pilar; Dauwerse, Johannes G.; Snider, Lauren; Straasheijm, Kirsten R.; Jan Van Ommen, Gert; Padberg, George W.; Miller, Daniel G.; Tapscott, Stephen J.; Tawil, Rabi; Frants, Rune R.; Van Der Maarel, Silvère M. (19 August 2010). "A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy". Science. 329 (5999): 1650–3. Bibcode:2010Sci...329.1650L. doi:10.1126/science.1189044. PMID 20724583.
↑ Genome Decoration Page, NCBI. Ideogram data for Homo sapience (400 bphs, Assembly GRCh38.p3). Last update 2014-03-04. Retrieved 2017-04-26.
↑ Genome Decoration Page, NCBI. Ideogram data for Homo sapience (550 bphs, Assembly GRCh38.p3). Last update 2015-08-11. Retrieved 2017-04-26.
↑ International Standing Committee on Human Cytogenetic Nomenclature (2013). ISCN 2013: An International System for Human Cytogenetic Nomenclature (2013). Karger Medical and Scientific Publishers. ISBN 978-3-318-02253-7.
↑ Sethakulvichai, W.; Manitpornsut, S.; Wiboonrat, M.; Lilakiatsakun, W.; Assawamakin, A.; Tongsima, S. (2012). "Estimation of band level resolutions of human chromosome images" (PDF). In Computer Science and Software Engineering (JCSSE), 2012 International Joint Conference on: 276–282. doi:10.1109/JCSSE.2012.6261965.
↑ Genome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3). Last update 2014-06-03. Retrieved 2017-04-26.
↑ "p": Short arm; "q": Long arm.
↑ For cytogenetic banding nomenclature, see article locus.
↑ ^20.0 ^20.1 These values (ISCN start/stop) are based on the length of bands/ideograms from the ISCN book, An International System for Human Cytogenetic Nomenclature (2013). Arbitrary unit.
↑ gpos: Region which is positively stained by G banding, generally AT-rich and gene poor; gneg: Region which is negatively stained by G banding, generally CG-rich and gene rich; acen Centromere. var: Variable region; stalk: Stalk.

External links

National Institutes of Health. "Chromosome 4". Genetics Home Reference. Retrieved 2017-05-06.
"Chromosome 4". Human Genome Project Information Archive 1990–2003. Retrieved 2017-05-06.

[National_Center_for_Biotechnology_Information_2017-1] "Human Genome Assembly GRCh38 - Genome Reference Consortium". National Center for Biotechnology Information. 2013-12-24. Retrieved 2017-03-04.

[CCDS-2] 2.0 ^2.1 "Search results - 4[CHR] AND "Homo sapiens"[Organism] AND ("has ccds"[Properties] AND alive[prop]) - Gene". NCBI. CCDS Release 20 for Homo sapiens. 2016-09-08. Retrieved 2017-05-28.

[StrachanRead2010-3] Tom Strachan; Andrew Read (2 April 2010). Human Molecular Genetics. Garland Science. p. 45. ISBN 978-1-136-84407-2.

[850bphs-4] 4.0 ^4.1 Genome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3). Last update 2014-06-03. Retrieved 2017-04-26.

[Chen2012-5] Chen LC, Liu MY, Hsiao YC, Choong WK, Wu HY, Hsu WL, Liao PC, Sung TY, Tsai SF, Yu JS, Chen YJ (2012) Decoding the disease-associated proteins encoded in the human chromosome 4. J Proteome Res

[pmid20441615-6] Pertea M, Salzberg SL (2010). "Between a chicken and a grape: estimating the number of human genes". Genome Biol. 11 (5): 206. doi:10.1186/gb-2010-11-5-206. PMC 2898077. PMID 20441615.

[HGNC20170512-7] "Statistics & Downloads for chromosome 4". HUGO Gene Nomenclature Committee. 2017-05-12. Retrieved 2017-05-19.

[Ensembl_Release_88-8] "Chromosome 4: Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19.

[NCBI_coding-9] "Search results - 4[CHR] AND "Homo sapiens"[Organism] AND ("genetype protein coding"[Properties] AND alive[prop]) - Gene". NCBI. 2017-05-19. Retrieved 2017-05-20.

[NCBI_noncoding-10] "Search results - 4[CHR] AND "Homo sapiens"[Organism] AND ( ("genetype miscrna"[Properties] OR "genetype ncrna"[Properties] OR "genetype rrna"[Properties] OR "genetype trna"[Properties] OR "genetype scrna"[Properties] OR "genetype snrna"[Properties] OR "genetype snorna"[Properties]) NOT "genetype protein coding"[Properties] AND alive[prop]) - Gene". NCBI. 2017-05-19. Retrieved 2017-05-20.

[NCBI_pseudo-11] "Search results - 4[CHR] AND "Homo sapiens"[Organism] AND ("genetype pseudo"[Properties] AND alive[prop]) - Gene". NCBI. 2017-05-19. Retrieved 2017-05-20.

[Unifying-12] Lemmers, Richard; Patrick J. van der Vliet, Rinse Klooster, Sabrina Sacconi, Pilar Camaño, Johannes G. Dauwerse, Lauren Snider, Kirsten R. Straasheijm, Gert Jan van Ommen, George W. Padberg, Daniel G. Miller, Stephen J. Tapscott, Rabi Tawil, Rune R. Frants, and Silvère M. van der Maarel; Klooster, Rinse; Sacconi, Sabrina; Camaño, Pilar; Dauwerse, Johannes G.; Snider, Lauren; Straasheijm, Kirsten R.; Jan Van Ommen, Gert; Padberg, George W.; Miller, Daniel G.; Tapscott, Stephen J.; Tawil, Rabi; Frants, Rune R.; Van Der Maarel, Silvère M. (19 August 2010). "A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy". Science. 329 (5999): 1650–3. Bibcode:2010Sci...329.1650L. doi:10.1126/science.1189044. PMID 20724583.

[400bphs-13] Genome Decoration Page, NCBI. Ideogram data for Homo sapience (400 bphs, Assembly GRCh38.p3). Last update 2014-03-04. Retrieved 2017-04-26.

[550bphs-14] Genome Decoration Page, NCBI. Ideogram data for Homo sapience (550 bphs, Assembly GRCh38.p3). Last update 2015-08-11. Retrieved 2017-04-26.

[Nomenclature2013-15] International Standing Committee on Human Cytogenetic Nomenclature (2013). ISCN 2013: An International System for Human Cytogenetic Nomenclature (2013). Karger Medical and Scientific Publishers. ISBN 978-3-318-02253-7.

[SethakulvichaiManitpornsut2012-16] Sethakulvichai, W.; Manitpornsut, S.; Wiboonrat, M.; Lilakiatsakun, W.; Assawamakin, A.; Tongsima, S. (2012). "Estimation of band level resolutions of human chromosome images" (PDF). In Computer Science and Software Engineering (JCSSE), 2012 International Joint Conference on: 276–282. doi:10.1109/JCSSE.2012.6261965.

[17] Genome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3). Last update 2014-06-03. Retrieved 2017-04-26.

[18] "p": Short arm; "q": Long arm.

[19] For cytogenetic banding nomenclature, see article locus.

[ISCN-20] 20.0 ^20.1 These values (ISCN start/stop) are based on the length of bands/ideograms from the ISCN book, An International System for Human Cytogenetic Nomenclature (2013). Arbitrary unit.

[21] gpos: Region which is positively stained by G banding, generally AT-rich and gene poor; gneg: Region which is negatively stained by G banding, generally CG-rich and gene rich; acen Centromere. var: Variable region; stalk: Stalk.

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