AutismKB 2.0

Evidence Details for INTS9


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Basic Information Top
Gene Symbol:INTS9 ( CPSF2L,FLJ10871,INT9,RC74 )
Gene Full Name: integrator complex subunit 9
Band: 8p21.1
Quick LinksEntrez ID:55756; OMIM: 611352; Uniprot ID:INT9_HUMAN; ENSEMBL ID: ENSG00000104299; HGNC ID: 25592
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>INTS9|55756|nucleotide
ATGAAACTGTATTGCCTGTCAGGGCACCCAACCTTACCATGCAATGTGCTCAAATTCAAATCAACCACCATTATGTTGGACTGCGGACTGGACATGACTTCTACC
CTCAATTTCCTTCCTTTGCCACTTGTTCAAAGTCCCAGGCTGTCCAATCTTCCTGGCTGGTCCCTGAAGGATGGAAATGCTTTCTTGGACAAGACGGAGCTAATA
GATCTGTCTACAGTAGATGTGATTCTCATCTCTAACTATCACTGTATGATGGCGCTGCCATACATCACCGAGCACACCGGCTTCACAGGCACAGTGTATGCCACG
GAACCCACCGTCCAGATCGGCAGGCTTCTCATGGAAGAGCTGGTGAATTTCATTGAAAGAGTGCCAAAGGCTCAGTCTGCCTCCTTGTGGAAGAATAAGGACATT
CAGAGGCTGTTACCTTCTCCTCTCAAGGATGCAGTGGAAGTCTCAACCTGGAGAAGATGCTATACAATGCAAGAGGTGAACTCTGCCCTTAGTAAAATCCAGCTG
GTGGGATATTCTCAGAAAATTGAGCTTTTTGGTGCGGTCCAGGTGACTCCTCTGAGCTCTGGCTATGCCCTTGGGAGCTCCAACTGGATCATCCAGTCTCATTAC
GAGAAAGTGTCTTATGTCTCTGGATCCTCCTTGCTTACCACACACCCCCAGCCCATGGACCAAGCTTCTCTCAAAAACAGCGATGTTCTTGTTCTGACAGGGCTT
ACCCAGATCCCCACTGCAAACCCAGATGGAATGGTGGGAGAGTTCTGCAGCAACCTAGCTCTGACAGTCCGGAATGGAGGAAACGTGTTGGTTCCCTGCTACCCT
TCTGGAGTGATCTATGACCTCCTGGAGTGCCTATATCAGTACATCGACTCAGCCGGGCTTTCCAGCGTCCCCCTCTACTTCATCTCCCCTGTGGCCAACAGTTCA
CTGGAGTTTTCCCAGATCTTTGCTGAGTGGCTTTGTCACAACAAACAGAGTAAGGTGTATCTTCCAGAACCACCTTTTCCTCATGCAGAGCTCATTCAGACCAAT
AAGCTGAAGCACTACCCCAGCATCCACGGAGACTTCAGCAACGACTTTAGACAGCCCTGTGTGGTGTTCACCGGGCACCCTTCCCTCCGCTTCGGGGACGTGGTC
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>INTS9|55756|protein
MKLYCLSGHPTLPCNVLKFKSTTIMLDCGLDMTSTLNFLPLPLVQSPRLSNLPGWSLKDGNAFLDKTELIDLSTVDVILISNYHCMMALPYITEHTGFTGTVYAT
EPTVQIGRLLMEELVNFIERVPKAQSASLWKNKDIQRLLPSPLKDAVEVSTWRRCYTMQEVNSALSKIQLVGYSQKIELFGAVQVTPLSSGYALGSSNWIIQSHY
EKVSYVSGSSLLTTHPQPMDQASLKNSDVLVLTGLTQIPTANPDGMVGEFCSNLALTVRNGGNVLVPCYPSGVIYDLLECLYQYIDSAGLSSVPLYFISPVANSS
LEFSQIFAEWLCHNKQSKVYLPEPPFPHAELIQTNKLKHYPSIHGDFSNDFRQPCVVFTGHPSLRFGDVVHFMELWGKSSLNTVIFTEPDFSYLEALAPYQPLAM
KCIYCPIDTRLNFIQVSKLLKEVQPLHVVCPEQYTQPPPAQSHRMDLMIDCQPPAMSYRRAEVLALPFKRRYEKIEIMPELADSLVPMEIKPGISLATVSAVLHT
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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) 1 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (2)
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
Papanikolaou, 2006 - FISHautism - - - - 1 - 1
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top