AutismKB 2.0

Annotation Detail for IFT172


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Basic Information Top
Gene Symbol:IFT172 ( DKFZp434A163,KIAA1179,SLB,osm-1,wim )
Gene Full Name: intraflagellar transport 172 homolog (Chlamydomonas)
Band: 2p23.3
Quick LinksEntrez ID:26160; OMIM: 607386; Uniprot ID:IF172_HUMAN; ENSEMBL ID: ENSG00000138002; HGNC ID: 30391
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1N-acetylmethionine.
1445Phosphotyrosine.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_015662
  • Location:chr2 27520744-27566074
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
HIF1 HypoHepG2 27565902 27566344 442 49
Oct4 hESGSE17917 27565866 27566494 628 106
Rb GrowingGSE19898 27566153 27566348 195 176
TAF k562GSE8489 27566715 27566900 185 733
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 27536185 27536324 139 0
HIF1 NormHepG2 27565563 27566344 781 0
Myc K562GSE19551 27565478 27566641 1163 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
14072 EST chr2 27577969 27580997 55 mRNA SLB chr2 27578891 27624222Sense/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