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Chromosome 14

chromosome 14 disorder, chromosome 14 abnormality
Chromosome 14 is one of the 23 pairs of chromosomes in humans People normally have two copies of this chromosome Chromosome 14 spans about 107 million base pairs the building material of DNA and represents between 3 and 35% of the total DNA in cells

The centromere of chromosome 14 is positioned approximately at position 172 Mbp

Contents

  • 1 Genes
    • 11 Number of genes
    • 12 Gene list
  • 2 Diseases and disorders
  • 3 Cytogenetic band
  • 4 References
  • 5 External links

Genes

Number of genes

The following are some of the gene count estimates of human chromosome 14 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 by Protein-coding genes Non-coding RNA genes Pseudogenes Source Release date
CCDS 583 - - [2] 2016-09-08
HGNC 593 324 513 [6] 2017-05-12
Ensembl 820 856 518 [7] 2017-03-29
UniProt 720 - - [8] 2018-02-28
NCBI 621 690 598 [9][10][11] 2017-05-19

Gene list

See also: Category:Genes on human chromosome 14

The following is a partial list of genes on human chromosome 14 For complete list, see the link in the infobox on the right

  • ACIN1: encoding protein Apoptotic chromatin condensation inducer in the nucleus
  • ATXN3: Ataxin-3 Machado-Joseph disease
  • C14orf1: encoding protein Probable ergosterol biosynthetic protein 28
  • C14orf93: encoding protein C14orf93
  • C14orf133: encoding protein Uncharacterized protein C14orf133
  • C14orf159: encoding protein UPF0317 protein C14orf159, mitochondrial
  • C14orf166: encoding protein UPF0568 protein C14orf166
  • C14orf169: encoding protein Chromosome 14 open reading frame 169
  • C14orf32/MAPK1IP1L: encoding protein MAPK-interacting and spindle-stabilizing protein-like
  • C14orf39: encoding protein Chromosome 14 open reading frame 39
  • C14orf4: encoding protein Enhanced at puberty protein 1
  • C14orf79: encoding protein Uncharacterized protein C14orf79
  • CDC42BPB: encoding protein CDC42 binding protein kinase beta
  • CHMP4A: Charged multivesicular body protein 4a
  • CIDEB: Cell death-inducing DFFA-like effector b
  • CMA1: encoding enzyme Chymase
  • CNIH: encoding protein Protein cornichon homolog
  • COCH: coagulation factor C homolog, cochlin Limulus polyphemus
  • CRIP2: Cysteine-rich protein 2
  • DDX24: encoding enzyme ATP-dependent RNA helicase DDX24
  • DEGS2: encoding protein Delta4-desaturase, sphingolipid 2
  • DLGAP5: Disks large-associated protein 5
  • EAPP: E2F-associated phosphoprotein
  • EGLN3: Egl nine homolog 3
  • ENTPD5: Ectonucleoside triphosphate diphosphohydrolase 5
  • Fam158a: encoding protein UPF0172 protein FAM158A
  • FAM181A: encoding protein Family with sequence similarity 181, member A
  • FAM71D: Family With Sequence Similarity 71, Member D
  • FCF1: rRNA-processing protein FCF1 homolog
  • GALC: galactosylceramidase Krabbe disease
  • GARNL1: GTPase-activating Rap/Ran-GAP domain-like 1
  • GCH1: GTP cyclohydrolase 1 dopa-responsive dystonia
  • GPHB5: Glycoprotein hormone beta-5
  • GSKIP encoding protein GSK3B interacting protein
  • HHIPL1: encoding protein HHIP-like protein 1
  • IFI27: encoding protein Interferon alpha-inducible protein 27
  • IFT43: intraflagellar transport 43
  • IGH@: immunoglobulin heavy chain locus
  • ITPK1: encoding enzyme Inositol-tetrakisphosphate 1-kinase
  • JKAMP: encoding protein JNK1-associated membrane protein
  • JPH4: encoding protein Junctophilin 4
  • LINC00520: a long non-coding RNA
  • MIA2: encoding protein Melanoma inhibitory activity protein 2
  • MIR494 encoding protein MicroRNA 494
  • MIR3173: encoding protein MicroRNA 3173
  • MIS18BP1: encoding protein MIS18 binding protein 1
  • MOAP1: encoding protein Modulator of apoptosis 1
  • MYH7: myosin heavy chain beta MHC-β isoform[12]
  • NPC2: Niemann-Pick disease, type C2
  • NUBPL: encoding protein Iron-sulfur protein NUBPL IND1
  • OSGEP: encoding enzyme Probable O-sialoglycoprotein endopeptidase
  • PAPOLA: encoding enzyme PolyA polymerase alpha
  • PCNX: encoding protein Pecanex-like protein 1
  • PELI2: encoding protein Protein pellino homolog 2
  • PSEN1: presenilin 1 Alzheimer disease 3
  • RPL10L: encoding protein 60S ribosomal protein L10-like
  • SERPINA1: serpin peptidase inhibitor, clade A alpha-1 antiproteinase, antitrypsin, member 1
  • SGPP1: encoding enzyme Sphingosine-1-phosphate phosphatase 1
  • TC2N: encoding protein Tandem C2 domains nuclear protein
  • TCL1B: encoding protein T-cell leukemia/lymphoma protein 1B
  • TIMM9: encoding enzyme Mitochondrial import inner membrane translocase subunit Tim9
  • TMED10: encoding protein Transmembrane emp24 domain-containing protein 10
  • TMEM260: encoding protein TMEM260
  • TRAJ56 encoding protein T cell receptor alpha joining 56
  • TSHR: thyroid stimulating hormone receptor
  • TUNAR: a long non-coding RNA
  • VASH1: encoding protein Vasohibin-1
  • WARS: encoding enzyme Tryptophanyl-tRNA synthetase, cytoplasmic
  • YLPM1: encoding protein YLP motif-containing protein 1
  • ZBTB1: encoding protein Zinc finger and BTB domain containing 1
  • ZFHX2: encoding protein Zinc finger homeobox 2
  • ZNF839: encoding protein Zinc finger protein 839

Diseases and disorders

The following diseases are some of those related to genes on chromosome 14:

  • Alzheimer disease
  • Burkitt's lymphoma t8;14
  • congenital hypothyroidism
  • dopamine-responsive dystonia
  • Follicular lymphoma t14;18
  • Hypertrophic cardiomyopathy
  • Krabbe disease
  • Cranio–lenticulo–sutural dysplasia
  • Machado-Joseph disease
  • Mosaic monosomy 14
  • Multiple myeloma
  • Niemann-Pick disease
  • Nonsyndromic deafness
  • Sensenbrenner syndrome
  • Tetrahydrobiopterin deficiency
  • Uniparental disomy UPD 14

Cytogenetic band

G-banding ideograms of human chromosome 14G-banding ideogram of human chromosome 14 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 eg Ensembl, UCSC Genome BrowserG-banding patterns of human chromosome 14 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 14 in resolution 850 bphs[17]
Chr Arm[18] Band[19] ISCN
start[20]
ISCN
stop[20]
Basepair
start
Basepair
stop
Stain[21] Density
14 p 13 0 284 7000100000000000000♠1 7006360000000000000♠3,600,000 gvar
14 p 12 284 624 7006360000100000000♠3,600,001 7006800000000000000♠8,000,000 stalk
14 p 112 624 1249 7006800000100000000♠8,000,001 7007161000000000000♠16,100,000 gvar
14 p 111 1249 1433 7007161000010000000♠16,100,001 7007172000000000000♠17,200,000 acen
14 q 111 1433 1660 7007172000010000000♠17,200,001 7007182000000000000♠18,200,000 acen
14 q 112 1660 2043 7007182000010000000♠18,200,001 7007241000000000000♠24,100,000 gneg
14 q 12 2043 2313 7007241000010000000♠24,100,001 7007329000000000000♠32,900,000 gpos 100
14 q 131 2313 2469 7007329000010000000♠32,900,001 7007348000000000000♠34,800,000 gneg
14 q 132 2469 2582 7007348000010000000♠34,800,001 7007361000000000000♠36,100,000 gpos 50
14 q 133 2582 2724 7007361000010000000♠36,100,001 7007374000000000000♠37,400,000 gneg
14 q 211 2724 2923 7007374000010000000♠37,400,001 7007430000000000000♠43,000,000 gpos 100
14 q 212 2923 3008 7007430000010000000♠43,000,001 7007467000000000000♠46,700,000 gneg
14 q 213 3008 3264 7007467000010000000♠46,700,001 7007504000000000000♠50,400,000 gpos 100
14 q 221 3264 3491 7007504000010000000♠50,400,001 7007536000000000000♠53,600,000 gneg
14 q 222 3491 3604 7007536000010000000♠53,600,001 7007550000000000000♠55,000,000 gpos 25
14 q 223 3604 3718 7007550000010000000♠55,000,001 7007576000000000000♠57,600,000 gneg
14 q 231 3718 3916 7007576000010000000♠57,600,001 7007616000000000000♠61,600,000 gpos 75
14 q 232 3916 4044 7007616000010000000♠61,600,001 7007643000000000000♠64,300,000 gneg
14 q 233 4044 4186 7007643000010000000♠64,300,001 7007674000000000000♠67,400,000 gpos 50
14 q 241 4186 4484 7007674000010000000♠67,400,001 7007698000000000000♠69,800,000 gneg
14 q 242 4484 4626 7007698000010000000♠69,800,001 7007733000000000000♠73,300,000 gpos 50
14 q 243 4626 4839 7007733000010000000♠73,300,001 7007788000000000000♠78,800,000 gneg
14 q 311 4839 5051 7007788000010000000♠78,800,001 7007831000000000000♠83,100,000 gpos 100
14 q 312 5051 5094 7007831000010000000♠83,100,001 7007844000000000000♠84,400,000 gneg
14 q 313 5094 5349 7007844000010000000♠84,400,001 7007893000000000000♠89,300,000 gpos 100
14 q 3211 5349 5406 7007893000010000000♠89,300,001 7007914000000000000♠91,400,000 gneg
14 q 3212 5406 5505 7007914000010000000♠91,400,001 7007942000000000000♠94,200,000 gpos 25
14 q 3213 5505 5619 7007942000010000000♠94,200,001 7007958000000000000♠95,800,000 gneg
14 q 322 5619 5732 7007958000010000000♠95,800,001 7008100900000000000♠100,900,000 gpos 50
14 q 3231 5732 5903 7008100900001000000♠100,900,001 7008102700000000000♠102,700,000 gneg
14 q 3232 5903 6016 7008102700001000000♠102,700,001 7008103500000000000♠103,500,000 gpos 50
14 q 3233 6016 6300 7008103500001000000♠103,500,001 7008107043718000000♠107,043,718 gneg

References

  1. ^ "Human Genome Assembly GRCh38 - Genome Reference Consortium" National Center for Biotechnology Information 2013-12-24 Retrieved 2017-03-04 
  2. ^ a b "Search results - 14[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 
  3. ^ Tom Strachan; Andrew Read 2 April 2010 Human Molecular Genetics Garland Science p 45 ISBN 978-1-136-84407-2 
  4. ^ a b Genome Decoration Page, NCBI Ideogram data for Homo sapience 850 bphs, Assembly GRCh38p3 Last update 2014-06-03 Retrieved 2017-04-26
  5. ^ Pertea M, Salzberg SL 2010 "Between a chicken and a grape: estimating the number of human genes" Genome Biol 11 5: 206 doi:101186/gb-2010-11-5-206 PMC 2898077  PMID 20441615 
  6. ^ "Statistics & Downloads for chromosome 14" HUGO Gene Nomenclature Committee 2017-05-12 Retrieved 2017-05-19 
  7. ^ "Chromosome 14: Chromosome summary - Homo sapiens" Ensembl Release 88 2017-03-29 Retrieved 2017-05-19 
  8. ^ "Human chromosome 14: entries, gene names and cross-references to MIM" UniProt 2018-02-28 Retrieved 2018-03-16 
  9. ^ "Search results - 14[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 - 14[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 - 14[CHR] AND "Homo sapiens"[Organism] AND "genetype pseudo"[Properties] AND alive[prop] - Gene" NCBI 2017-05-19 Retrieved 2017-05-20 
  12. ^ Quiat D, Voelker KA, Pei J, Grishin NV, Grange RW, Bassel-Duby R, Olson EN June 2011 "Concerted regulation of myofiber-specific gene expression and muscle performance by the transcriptional repressor Sox6" Proc Natl Acad Sci USA 108 25: 10196–201 doi:101073/pnas1107413108 PMC 3121857  PMID 21633012 
  13. ^ Genome Decoration Page, NCBI Ideogram data for Homo sapience 400 bphs, Assembly GRCh38p3 Last update 2014-03-04 Retrieved 2017-04-26
  14. ^ Genome Decoration Page, NCBI Ideogram data for Homo sapience 550 bphs, Assembly GRCh38p3 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" PDF In Computer Science and Software Engineering JCSSE, 2012 International Joint Conference on: 276–282 doi:101109/JCSSE20126261965 
  17. ^ Genome Decoration Page, NCBI Ideogram data for Homo sapience 850 bphs, Assembly GRCh38p3 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
  • Campo E 2003 "Genetic and molecular genetic studies in the diagnosis of B-cell lymphomas I: mantle cell lymphoma, follicular lymphoma, and Burkitt's lymphoma" Hum Pathol 34 4: 330–5 doi:101053/hupa200397 PMID 12733111 
  • Gilbert F 1999 "Disease genes and chromosomes: disease maps of the human genome Chromosome 14" Genet Test 3 4: 379–91 PMID 10627948 
  • Heilig R, Eckenberg R, Petit JL, Fonknechten N, Da Silva C, Cattolico L, Levy M, Barbe V, de Berardinis V, Ureta-Vidal A, Pelletier E, Vico V, Anthouard V, Rowen L, Madan A, Qin S, Sun H, Du H, Pepin K, Artiguenave F, Robert C, Cruaud C, Bruls T, Jaillon O, Friedlander L, Samson G, Brottier P, Cure S, Segurens B, Aniere F, Samain S, Crespeau H, Abbasi N, Aiach N, Boscus D, Dickhoff R, Dors M, Dubois I, Friedman C, Gouyvenoux M, James R, Madan A, Mairey-Estrada B, Mangenot S, Martins N, Menard M, Oztas S, Ratcliffe A, Shaffer T, Trask B, Vacherie B, Bellemere C, Belser C, Besnard-Gonnet M, Bartol-Mavel D, Boutard M, Briez-Silla S, Combette S, Dufosse-Laurent V, Ferron C, Lechaplais C, Louesse C, Muselet D, Magdelenat G, Pateau E, Petit E, Sirvain-Trukniewicz P, Trybou A, Vega-Czarny N, Bataille E, Bluet E, Bordelais I, Dubois M, Dumont C, Guerin T, Haffray S, Hammadi R, Muanga J, Pellouin V, Robert D, Wunderle E, Gauguet G, Roy A, Sainte-Marthe L, Verdier J, Verdier-Discala C, Hillier L, Fulton L, McPherson J, Matsuda F, Wilson R, Scarpelli C, Gyapay G, Wincker P, Saurin W, Quetier F, Waterston R, Hood L, Weissenbach J 2003 "The DNA sequence and analysis of human chromosome 14" Nature 421 6923: 601–7 doi:101038/nature01348 PMID 12508121 
  • Kamnasaran D, Cox DW 2002 "Current status of human chromosome 14" J Med Genet 39 2: 81–90 doi:101136/jmg39281 PMC 1735028  PMID 11836355 
  • Lemire EG, Cardwell S 1999 "Unusual phenotype in partial trisomy 14" Am J Med Genet 87 4: 294–6 doi:101002/SICI1096-86281999120387:4<294::AID-AJMG2>30CO;2-S PMID 10588832 
  • van Karnebeek CD, Quik S, Sluijter S, Hulsbeek MM, Hoovers JM, Hennekam RC 2002 "Further delineation of the chromosome 14q terminal deletion syndrome" Am J Med Genet 110 1: 65–72 doi:101002/ajmg10207 PMID 12116274 

External links

  • National Institutes of Health "Chromosome 14" Genetics Home Reference Retrieved 2017-05-06 
  • "Chromosome 14" Human Genome Project Information Archive 1990–2003 Retrieved 2017-05-06 

chromosome 14, chromosome 14 abnormality, chromosome 14 disorder, chromosome 14 duplication syndrome, chromosome 14 genes, chromosome 14 meaning, chromosome 14 syndrome, chromosome 14 traits, chromosome 14 trisomy mosaic, chromosome 14q deletion syndrome


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