AutismKB 2.0

Annotation Detail for ITIH5


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Basic Information Top
Gene Symbol:ITIH5 ( DKFZp686F0145,ITI-HC5,MGC10848 )
Gene Full Name: inter-alpha (globulin) inhibitor H5
Band: 10p14
Quick LinksEntrez ID:80760; OMIM: 609783; Uniprot ID:ITIH5_HUMAN; ENSEMBL ID: ENSG00000123243; HGNC ID: 21449
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
97N-linked (GlcNAc...) (Potential).
127N-linked (GlcNAc...) (Potential).
231N-linked (GlcNAc...) (Potential).
421N-linked (GlcNAc...) (Potential).
508N-linked (GlcNAc...) (Potential).
776N-linked (GlcNAc...) (Potential).
795N-linked (GlcNAc...) (Potential).
862N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001001851
  • Location:chr10 7653373-7748939
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
GABP HelaGSE8489 7754545 7755044 499 5855
KLF4 hESGSE17917 7757604 7757931 327 8828
Oct1 HelaGSE14283 7757454 7757495 41 8535
Oct4 hESGSE21916 7755552 7755798 246 6736
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
RARG MCF7GSE15244 7710608 7711553 945 0
RNAII Tamoxifen-MCF7GSE14664 7722115 7722198 83 0
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


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