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 193 million base pairs (the building material of DNA) and represents between 6 and 6.5 percent of the total DNA in cells.

Chromosome 4
Human chromosome 4 pair after G-banding. One is from mother, one is from father.
Chromosome 4 pair
in human male karyogram.
Features
Length (bp)193,574,945 bp
(CHM13)
No. of genes727 (CCDS)[1]
TypeAutosome
Centromere positionSubmetacentric[2]
(50.0 Mbp[3])
Complete gene lists
CCDSGene list
HGNCGene list
UniProtGene list
NCBIGene list
External map viewers
EnsemblChromosome 4
EntrezChromosome 4
NCBIChromosome 4
UCSCChromosome 4
Full DNA sequences
RefSeqNC_000004 (FASTA)
GenBankCM000666 (FASTA)

Genomics edit

The chromosome is ~193 megabases in length. In a 2012 paper, 775 protein-encoding genes were identified on this chromosome.[4] 211 (27.9%) of these coding sequences did not have any experimental evidence at the protein level, in 2012. 271 appear to be membrane proteins. 54 have been classified as cancer-associated proteins.

Genes edit

Number of genes edit

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.[5]

Estimated byProtein-coding genesNon-coding RNA genesPseudogenesSourceRelease date
CCDS727[1]2016-09-08
HGNC731277633[6]2017-05-12
Ensembl746993727[7]2017-03-29
UniProt765[8]2018-02-28
NCBI769934819[9][10][11]2017-05-19

Gene list edit

The following is a partial list of genes on human chromosome 4. For complete list, see the link in the infobox on the right.

Diseases and disorders edit

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

Cytogenetic band edit

G-banding ideograms of human chromosome 4
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).
G-banding patterns of human chromosome 4 in three different resolutions (400,[13] 550[14] and 850[3]). 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
4p16.3022014500000gneg
4p16.22203894,500,0016,000,000gpos25
4p16.13897796,000,00111,300,000gneg
4p15.33779106611,300,00115,000,000gpos50
4p15.321066128615,000,00117,700,000gneg
4p15.311286155717,700,00121,300,000gpos75
4p15.21557181121,300,00127,700,000gneg
4p15.11811216627,700,00135,800,000gpos100
4p142166250535,800,00141,200,000gneg
4p132505274241,200,00144,600,000gpos50
4p122742287744,600,00148,200,000gneg
4p112877304648,200,00150,000,000acen
4q113046324950,000,00151,800,000acen
4q123249357151,800,00158,500,000gneg
4q13.13571391058,500,00165,500,000gpos100
4q13.23910406265,500,00169,400,000gneg
4q13.34062433369,400,00175,300,000gpos75
4q21.14333450275,300,00178,000,000gneg
4q21.214502467178,000,00181,500,000gpos50
4q21.224671473981,500,00183,200,000gneg
4q21.234739487483,200,00186,000,000gpos25
4q21.34874514586,000,00187,100,000gneg
4q22.15145551787,100,00192,800,000gpos75
4q22.25517563692,800,00194,200,000gneg
4q22.35636589094,200,00197,900,000gpos75
4q235890605997,900,001100,100,000gneg
4q2460596347100,100,001106,700,000gpos50
4q2563476685106,700,001113,200,000gneg
4q2666857040113,200,001119,900,000gpos75
4q2770407277119,900,001122,800,000gneg
4q28.172777565122,800,001127,900,000gpos50
4q28.275657734127,900,001130,100,000gneg
4q28.377348259130,100,001138,500,000gpos100
4q31.182598581138,500,001140,600,000gneg
4q31.2185818733140,600,001145,900,000gpos25
4q31.2287338851145,900,001147,500,000gneg
4q31.2388519004147,500,001150,200,000gpos25
4q31.390049207150,200,001154,600,000gneg
4q32.192079545154,600,001160,800,000gpos100
4q32.295459681160,800,001163,600,000gneg
4q32.396819985163,600,001169,200,000gpos100
4q33998510087169,200,001171,000,000gneg
4q34.11008710341171,000,001175,400,000gpos75
4q34.21034110408175,400,001176,600,000gneg
4q34.31040810628176,600,001182,300,000gpos100
4q35.11062810967182,300,001186,200,000gneg
4q35.21096711170186,200,001190,214,555gpos25

References edit

  1. ^ a b "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.
  2. ^ Tom Strachan; Andrew Read (2 April 2010). Human Molecular Genetics. Garland Science. p. 45. ISBN 978-1-136-84407-2.
  3. ^ a b Genome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3). Last update 2014-06-03. Retrieved 2017-04-26.
  4. ^ 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
  5. ^ 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.
  6. ^ "Statistics & Downloads for chromosome 4". HUGO Gene Nomenclature Committee. 2017-05-12. Archived from the original on 2017-06-29. Retrieved 2017-05-19.
  7. ^ "Chromosome 4: Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19.
  8. ^ "Human chromosome 4: entries, gene names and cross-references to MIM". UniProt. 2018-02-28. Retrieved 2018-03-16.
  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.
  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.
  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.
  12. ^ Lemmers RJ, van der Vliet PJ, Klooster R, Sacconi S, Camaño P, Dauwerse JG, Snider L, Straasheijm KR, van Ommen GJ, Padberg GW, Miller DG, Tapscott SJ, Tawil R, Frants RR, van der Maarel SM (September 2010). "A unifying genetic model for facioscapulohumeral muscular dystrophy". Science. 329 (5999): 1650–3. Bibcode:2010Sci...329.1650L. doi:10.1126/science.1189044. PMC 4677822. PMID 20724583.
  13. ^ Genome Decoration Page, NCBI. Ideogram data for Homo sapience (400 bphs, Assembly GRCh38.p3). Last update 2014-03-04. Retrieved 2017-04-26.
  14. ^ Genome Decoration Page, NCBI. Ideogram data for Homo sapience (550 bphs, Assembly GRCh38.p3). Last update 2015-08-11. Retrieved 2017-04-26.
  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.
  16. ^ Sethakulvichai, W.; Manitpornsut, S.; Wiboonrat, M.; Lilakiatsakun, W.; Assawamakin, A.; Tongsima, S. (2012). "Estimation of band level resolutions of human chromosome images". 2012 Ninth International Conference on Computer Science and Software Engineering (JCSSE). pp. 276–282. doi:10.1109/JCSSE.2012.6261965. ISBN 978-1-4673-1921-8. S2CID 16666470.
  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.
  20. ^ a b 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.

Further reading edit

External links edit

  • National Institutes of Health. "Chromosome 4". Genetics Home Reference. Archived from the original on August 3, 2004. Retrieved 2017-05-06.
  • "Chromosome 4". Human Genome Project Information Archive 1990–2003. Retrieved 2017-05-06.