AutismKB 2.0

Annotation Detail for DFNA5


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Basic Information Top
Gene Symbol:DFNA5 ( ICERE-1 )
Gene Full Name: deafness, autosomal dominant 5
Band: 7p15
Quick LinksEntrez ID:1687; OMIM: 608798; Uniprot ID:DFNA5_HUMAN; ENSEMBL ID: ENSG00000105928; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
69Phosphoserine(CDC2)HMM predict
69Phosphoserine(CDK)HMM predict
111Phosphoserine(PKG)HMM predict
111Phosphoserine(ATM)HMM predict
194Phosphoserine(PKG)HMM predict
196O-linkedHMM predict
200N-linkedHMM predict
206N-linkedHMM predict
254Phosphotyrosine(Syk)HMM predict
277Phosphoserine(ATM)HMM predict
339Phosphoserine(CDC2)HMM predict
429Phosphoserine(CK2)HMM predict
437Phosphothreonine(MAPK)HMM predict
437Phosphothreonine(CDK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004403
  • Location:chr7 24704498-24764163
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K27me3 colorectalcancer 24764054 24765577 1523 652
Myc K562GSE19551 24769481 24769887 406 5521
Oct1 HelaGSE14283 24769950 24769987 37 5805
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 24714101 24714448 347 0
CTCF G2GSE9613 24718341 24718770 429 0
CTCF G2GSE9613 24719585 24719936 351 0
CTCF G2GSE9613 24720688 24721025 337 0
CTCF G2GSE9613 24721662 24722279 617 0
CTCF G2GSE9613 24723580 24723821 241 0
CTCF G2GSE9613 24727796 24728157 361 0
CTCF G2GSE9613 24728592 24729547 955 0
CTCF G2GSE9613 24732025 24732316 291 0
CTCF G2GSE9613 24734406 24734722 316 0
CTCF G2GSE9613 24735625 24735917 292 0
CTCF G2GSE9613 24750803 24750988 185 0
CTCF G2GSE9613 24763323 24764054 731 0
ER MCF7GSE19013 24719302 24720010 708 0
H3K27me3 colorectalcancer 24760659 24760832 173 0
Myc K562GSE19551 24721957 24722354 397 0
NRSF JurkatGSE13047 24721786 24722442 656 0
NRSF JurkatSISSRdata 24722011 24722448 437 0
NRSF mAbJurkat 24721662 24722109 447 0
NRSF-mono JurkatQuESTdata 24721924 24722435 511 0
NRSF-poly JurkatQuESTdata 24754802 24754993 191 0
Nanog ESGSE20650 24732066 24732764 698 0
Nanog hESGSE18292 24732187 24732706 519 0
Oct1 H2O2-HelaGSE14283 24738775 24738813 38 0
Oct1 H2O2-HelaGSE14283 24742755 24742791 36 0
Oct1 HelaGSE14283 24738775 24738813 38 0
Oct1 HelaGSE14283 24742746 24742788 42 0
Oct1 HelaGSE14283 24757791 24757822 31 0
Oct4 hESGSE21916 24731993 24732693 700 0
TFAP2C MCF7GSE21234 24727691 24728361 670 0
TFAP2C MCF7GSE21234 24739762 24740317 555 0
hScc1 BcellGSE12603 24762938 24763733 795 0
hScc1 CdLSGSE12603 24721662 24722279 617 0
hScc1 G2GSE9613 24727796 24728085 289 0
hScc1 G2GSE9613 24728665 24730065 1400 0
hScc1 G2GSE9613 24763323 24764273 950 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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