AutismKB 2.0

Annotation Detail for COCH


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Basic Information Top
Gene Symbol:COCH ( COCH-5B2,COCH5B2,DFNA9 )
Gene Full Name: coagulation factor C homolog, cochlin (Limulus polyphemus)
Band: 14q12
Quick LinksEntrez ID:1690; OMIM: 603196; Uniprot ID:COCH_HUMAN; ENSEMBL ID: ENSG00000100473; HGNC ID: 2180
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
100N-linked (GlcNAc...) (Potential).
221N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
100N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
221N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
24O-linkedHMM predict
60Phosphoserine(CK1)HMM predict
62Phosphotyrosine(INSR)HMM predict
100N-linkedHMM predict
101Phosphotyrosine(INSR)HMM predict
101Phosphotyrosine(Syk)HMM predict
129Phosphoserine(PKG)HMM predict
130Phosphothreonine(PKC)HMM predict
139O-linkedHMM predict
152Phosphothreonine(CDC2)HMM predict
221N-linkedHMM predict
377Phosphoserine(ATM)HMM predict
424Phosphotyrosine(INSR)HMM predict
464Phosphoserine(CDC2)HMM predict
479Phosphotyrosine(Syk)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004086
  • Location:chr14 30413515-30429572
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 30413174 30413427 253 215
STAT1 IFNSISSRdata 30400926 30401448 522 12329
hScc1 CdLSGSE12603 30413028 30413861 833 71
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K27me3 colorectalcancer 30414309 30415308 999 0
Oct1 HelaGSE14283 30418541 30418596 55 0
Oct1 HelaGSE14283 30418920 30418967 47 0
hScc1 BcellGSE12603 30413247 30414281 1034 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
7758 mRNA COCH chr14 30413528 30434010 141 mRNA STRN3 chr14 30432760 30565340Sense/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