AutismKB 2.0

Annotation Detail for IVL


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Basic Information Top
Gene Symbol:IVL ( - )
Gene Full Name: involucrin
Band: 1q21.3
Quick LinksEntrez ID:3713; OMIM: 147360; Uniprot ID:INVO_HUMAN; ENSEMBL ID: ENSG00000163207; HGNC ID: 6187
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
12Phosphoserine(IKK)HMM predict
12Phosphoserine(CDC2)HMM predict
16Phosphoserine(ATM)HMM predict
38O-linkedHMM predict
98Phosphotyrosine(EGFR)HMM predict
98Phosphotyrosine(Jak)HMM predict
98Phosphotyrosine(Syk)HMM predict
98SulfotyrosineHMM predict
236Phosphoserine(CK1)HMM predict
246Phosphoserine(CK1)HMM predict
256Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005547
  • Location:chr1 151147662-151150984
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 151144244 151144412 168 3335
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 151165385 151165568 183 14492
hScc1 BcellGSE12603 151165166 151165533 367 14365
hScc1 BcellGSE12603 151167649 151167834 185 16757
hScc1 CdLSGSE12603 151164931 151165568 637 14265
No data
Validated miRNA targets Top
Cis-Nats regulation Top

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  (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