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

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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
Bremer, 2011 - aCGHASD - - - - 223 - 223
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top