AutismKB 2.0

Evidence Details for ITPR1


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Basic Information Top
Gene Symbol:ITPR1 ( DKFZp313E1334,DKFZp313N1434,INSP3R1,IP3R,IP3R1,SCA15,SCA16 )
Gene Full Name: inositol 1,4,5-triphosphate receptor, type 1
Band: 3p26.1
Quick LinksEntrez ID:3708; OMIM: 147265; Uniprot ID:ITPR1_HUMAN; ENSEMBL ID: ENSG00000150995; HGNC ID: 6180
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ITPR1|3708|nucleotide
ATGTCTGACAAAATGTCTAGCTTCCTACATATTGGAGACATTTGTTCTCTGTACGCGGAGGGATCGACAAATGGATTTATTAGCACCTTGGGCCTGGTTGATGAT
CGTTGTGTTGTACAGCCAGAAACCGGGGACCTTAACAATCCACCTAAGAAATTCAGAGACTGCCTCTTTAAGCTATGTCCCATGAACCGCTACTCTGCCCAAAAG
CAGTTCTGGAAAGCCGCTAAGCCTGGGGCCAACAGCACCACAGACGCAGTGCTACTCAACAAACTGCACCACGCTGCAGACTTGGAAAAGAAGCAGAATGAGACA
GAAAACAGGAAATTGCTGGGGACCGTAATCCAGTATGGCAATGTGATCCAGCTCCTGCATTTGAAAAGTAATAAATACCTAACAGTGAATAAGAGGCTTCCTGCT
CTGTTGGAGAAGAATGCCATGAGAGTCACATTGGACGAGGCTGGAAATGAAGGGTCCTGGTTTTATATTCAGCCATTCTACAAGCTGCGATCCATTGGAGACAGC
GTGGTCATAGGTGACAAGGTGGTTCTGAACCCCGTCAATGCTGGTCAGCCCCTACATGCTAGCAGCCATCAACTGGTAGATAACCCAGGCTGCAATGAGGTCAAT
TCCGTCAACTGCAATACAAGCTGGAAAATAGTCCTTTTCATGAAATGGAGTGATAACAAAGACGACATATTAAAGGGGGGTGACGTGGTGAGGCTGTTTCATGCT
GAGCAGGAGAAGTTTCTCACCTGTGACGAACACAGGAAGAAGCAGCACGTCTTCCTGAGAACCACGGGCCGGCAGTCGGCCACATCTGCCACCAGTTCAAAAGCC
CTGTGGGAGGTGGAGGTGGTCCAGCATGACCCATGTCGGGGCGGAGCAGGGTATTGGAACAGCCTTTTCCGTTTCAAGCATCTGGCCACGGGGCATTACTTGGCA
GCAGAGGTAGACCCTGACTTTGAGGAAGAATGCCTGGAGTTTCAGCCCTCAGTGGACCCTGATCAGGACGCCTCTCGAAGTAGGTTGCGGAATGCCCAAGAAAAG
ATGGTATACTCCCTGGTCTCTGTGCCTGAAGGCAATGACATCTCCTCCATTTTCGAGCTAGATCCCACCACTCTGCGTGGAGGTGACAGCCTTGTCCCAAGGAAC
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>ITPR1|3708|protein
MSDKMSSFLHIGDICSLYAEGSTNGFISTLGLVDDRCVVQPETGDLNNPPKKFRDCLFKLCPMNRYSAQKQFWKAAKPGANSTTDAVLLNKLHHAADLEKKQNET
ENRKLLGTVIQYGNVIQLLHLKSNKYLTVNKRLPALLEKNAMRVTLDEAGNEGSWFYIQPFYKLRSIGDSVVIGDKVVLNPVNAGQPLHASSHQLVDNPGCNEVN
SVNCNTSWKIVLFMKWSDNKDDILKGGDVVRLFHAEQEKFLTCDEHRKKQHVFLRTTGRQSATSATSSKALWEVEVVQHDPCRGGAGYWNSLFRFKHLATGHYLA
AEVDPDFEEECLEFQPSVDPDQDASRSRLRNAQEKMVYSLVSVPEGNDISSIFELDPTTLRGGDSLVPRNSYVRLRHLCTNTWVHSTNIPIDKEEEKPVMLKIGT
SPVKEDKEAFAIVPVSPAEVRDLDFANDASKVLGSIAGKLEKGTITQNERRSVTKLLEDLVYFVTGGTNSGQDVLEVVFSKPNRERQKLMREQNILKQIFKLLQA
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Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (0) 0 (3) 0 (0) 0 (0) 2 (2) 1 (3) 0 (0) 1 (1) 0 (0) 20 (9)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Bremer, 2011 - aCGHASD - - - - 223 - 223
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 2
Reference Source Tissue #Subjects
(% Women)		 ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)		 Fold Change Up/ Down P/Q value
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)		-autism 16
(6.25%)		 0.720029 Down 0.107648
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1789505
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Voineagu, 2011_2 Unknown frontal, BA44/45 10
(0.00%)		-autism 6
(0.00%)		 0.82738 Down 0.184392
  • Platform: Illumina Ref8 v4 microarrays
  • ProbeSet: ILMN_1789505
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)		 ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
Wang T, 2016 1543 1045 54 De novo genic mutations among a Chinese autism spectrum disorder cohort
Geisheker MR, 2017 - - 36 Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Wang T, 2016 China Illumina HiSeq 2000ASD 1045 - - 1543 PCR and Sanger sequencing
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

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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