AutismKB 2.0

Annotation Detail for H2AFV


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Basic Information Top
Gene Symbol:H2AFV ( FLJ26479,H2AV,MGC10170,MGC10831,MGC1947 )
Gene Full Name: H2A histone family, member V
Band: 7p13
Quick LinksEntrez ID:94239; OMIM: NA; Uniprot ID:H2AV_HUMAN; ENSEMBL ID: ENSG00000105968; HGNC ID: 20664
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
5N6-acetyllysine.
8N6-acetyllysine.
12N6-acetyllysine.
14N6-acetyllysine.
Location(AA) Modifications Resource
5N6-acetyllysine.Swiss-Prot 53.0
8N6-acetyllysine.Swiss-Prot 53.0
12N6-acetyllysine.Swiss-Prot 53.0
14N6-acetyllysine.Swiss-Prot 53.0
122Glycyl lysine isopeptide (Lys-Gly)(interchain with G-Cter in ubiquitin) (Bysimilarity).Swiss-Prot 53.0
Location(AA) Modification Resource
21Phosphoserine(ATM)HMM predict
42Phosphothreonine(PKA)HMM predict
83Phosphothreonine(PKA)HMM predict
83Phosphothreonine(MAPK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_012412
  • Location:chr7 44839998-44854233
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 44863087 44863370 283 8995
CTCF CD4SISSRdata 44863087 44863370 283 8995
CTCF JurkatGSE12889 44863154 44863400 246 9044
CTCF G2GSE9613 44854615 44854771 156 460
E2F4 G0GSE7516 44854239 44854771 532 272
ER E2-MCF7GSE14664 44854320 44854363 43 108
ER E2-MCF7GSE14664 44860646 44860678 32 6429
Fos K562GSE19551 44863117 44863567 450 9109
LIN9 G0GSE7516 44854212 44854771 559 258
LIN9 SGSE7516 44854212 44854771 559 258
Nanog ESGSE20650 44863087 44863416 329 9018
Oct1 H2O2-HelaGSE14283 44867056 44867083 27 12836
P300 T30-glioblastomaGSE21026 44853239 44855314 2075 43
PHF8 293TGSE20725 44853544 44855189 1645 133
PHF8 HeLaGSE20725 44854557 44854941 384 516
RNAII Tamoxifen-MCF7GSE14664 44861440 44861530 90 7252
Rb GrowingGSE19898 44854338 44854818 480 345
Rb QuiescentGSE19898 44854177 44855080 903 395
Rb SenescentGSE19898 44854122 44854935 813 295
Rb shRbQuiescentGSE19898 44854275 44854783 508 296
Rb shRbSenescenceGSE19898 44854334 44854963 629 415
Rb shRbSenescenceGSE19898 44863090 44863343 253 8983
p130 QuiescentGSE19898 44854211 44854818 607 281
p130 SenescentGSE19898 44854199 44855000 801 366
p130 shRbQuiescentGSE19898 44854224 44854961 737 359
p130 shRbSenescentGSE19898 44854117 44854989 872 320
p130 G0GSE7516 44854212 44854771 559 258
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 44853506 44854378 872 0
ER E2-MCF7GSE14664 44851523 44851583 60 0
ER E2-MCF7GSE14664 44852092 44852167 75 0
FOXA1 MCF7GSE15244 44853506 44854771 1265 0
H3K4me3 colorectalcancer 44853211 44853916 705 0
H3ac HepG2E 44852849 44853888 1039 0
PHF8 HeLaGSE20725 44853495 44854533 1038 0
Rb QuiescentGSE19898 44853713 44853935 222 0
Rb SenescentGSE19898 44853597 44854002 405 0
TAF HelaGSE8489 44851819 44852422 603 0
TAF HelaGSE8489 44852849 44853852 1003 0
TAF k562GSE8489 44852849 44853916 1067 0
hScc1 BcellGSE12603 44853470 44854336 866 0
hScc1 CdLSGSE12603 44853435 44854378 943 0
hScc1 G2GSE9613 44853358 44853916 558 0
p130 shRbQuiescentGSE19898 44853503 44853855 352 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
23943 EST chr7 44644816 44645412 460 mRNA H2AFV chr7 44644816 44647011Sense/Antisense (SA) pairs

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018