AutismKB 2.0

Annotation Detail for CA5A


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Basic Information Top
Gene Symbol:CA5A ( CA5,CAV,CAVA )
Gene Full Name: carbonic anhydrase VA, mitochondrial
Band: 16q24.2
Quick LinksEntrez ID:763; OMIM: 114761; Uniprot ID:CAH5A_HUMAN; ENSEMBL ID: ENSG00000174990; HGNC ID: 1377
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
45N-linkedHMM predict
46N-linkedHMM predict
76Phosphotyrosine(Syk)HMM predict
235O-linkedHMM predict
236Phosphothreonine(CDK)HMM predict
236PhosphothreonineHMM predict
257Phosphoserine(ATM)HMM predict
299O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001739
  • Location:chr16 86479125-86527612
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 86530566 86531108 542 3225
H3ac HepG2E 86527301 86528203 902 140
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 86476601 86476777 176 2437
H3ac HepG2E 86470375 86471027 652 8425
TFAP2C MCF7GSE21234 86476324 86476992 668 2468
USF1 HepG2E 86470415 86471089 674 8374
USF2 HepG2E 86470375 86472156 1781 7860
hScc1 BcellGSE12603 86470072 86470778 706 8701
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 86486170 86489683 3513 0
CTCF CD4GSE12889 86500472 86500831 359 0
CTCF CD4SISSRdata 86500472 86500831 359 0
CTCF HelaGSE12889 86500488 86500771 283 0
CTCF JurkatGSE12889 86500553 86500747 194 0
CTCF G2GSE9613 86480956 86481513 557 0
CTCF G2GSE9613 86500250 86500927 677 0
CTCF G2GSE9613 86516685 86517022 337 0
Fos K562GSE19551 86512464 86512855 391 0
Myc K562GSE19551 86480899 86481131 232 0
Myc K562GSE19551 86500490 86500813 323 0
NFkBII GM12892GSE19485 86515298 86516198 900 0
P300 T30-glioblastomaGSE21026 86501940 86502962 1022 0
P300 T30-glioblastomaGSE21026 86522296 86523308 1012 0
RARA MCF7GSE15244 86500493 86500927 434 0
RARA MCF7GSE15244 86523319 86524088 769 0
STAT1 IFNSISSRdata 86500465 86501187 722 0
TAF HelaGSE8489 86526408 86526674 266 0
hScc1 BcellGSE12603 86480918 86481513 595 0
hScc1 BcellGSE12603 86500250 86500927 677 0
hScc1 CdLSGSE12603 86480918 86481184 266 0
hScc1 CdLSGSE12603 86500250 86500927 677 0
hScc1 G2GSE9613 86500250 86500927 677 0
p63 keratinocytesGSE17611 86515478 86516409 931 0
Validated miRNA targets Top
Cis-Nats regulation Top

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


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