AutismKB 2.0

Evidence Details for IGSF5


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Basic Information Top
Gene Symbol:IGSF5 ( GSF5,JAM4 )
Gene Full Name: immunoglobulin superfamily, member 5
Band: 21q22.2
Quick LinksEntrez ID:150084; OMIM: 610638; Uniprot ID:IGSF5_HUMAN; ENSEMBL ID: ENSG00000183067; HGNC ID: 5952
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>IGSF5|150084|nucleotide
ATGGGTCAGAAGGAAAGGAGCACAGCAGATACTCTGCCGGATCTGGAGGAATGGAAGTCAGCGGCGGGTCTGCGATGGTGGCAAACAGCAGTGGTGGACGGTTCT
GGGTCTGGTAATGAAGTCATAGAAGGCCCCCAAAATGCAAGAGTCCTGAAGGGCTCCCAGGCTCGCTTCAACTGCACCGTCTCCCAGGGCTGGAAGCTCATCATG
TGGGCTCTCAGTGACATGGTGGTGCTAAGCGTCAGGCCCATGGAGCCCATCATCACCAATGACCGCTTCACCTCTCAGAGGTACGACCAGGGCGGGAACTTCACC
TCGGAGATGATCATCCACAATGTGGAGCCCAGTGATTCGGGGAACATCAGATGCAGCCTCCAGAACAGTCGCCTGCATGGATCTGCTTACCTTACCGTCCAAGTT
ATGGGAGAGCTGTTCATTCCCAGTGTTAATCTTGTAGTCGCTGAGAATGAACCTTGTGAAGTTACTTGTCTACCCTCACACTGGACCCGGCTCCCGGATATTTCC
TGGGAGCTCGGTCTCCTGGTCAGCCATTCAAGCTATTATTTTGTTCCGGAGCCCAGCGACCTTCAAAGTGCAGTGAGCATCCTGGCTCTGACCCCACAGAGCAAT
GGGACTTTGACTTGCGTGGCTACCTGGAAGAGCCTGAAGGCCCGCAAGTCTGCAACTGTAAATCTCACTGTGATTCGGTGTCCCCAAGACACTGGAGGTGGTATT
AATATTCCAGGTGTATTATCAAGTTTACCGAGTTTAGGTTTTTCATTGCCTACTTGGGGCAAAGTTGGACTTGGACTAGCAGGCACCATGCTTCTGACGCCGACG
TGTACTCTTACAATACGCTGCTGCTGCTGCCGCCGTCGTTGTTGTGGCTGCAACTGCTGCTGCCGTTGTTGTTTCTGCTGTAGAAGAAAAAGAGGATTTCGTATT
CAATTTCAAAAGAAATCTGAAAAAGAGAAGACAAACAAAGAAACTGAGACAGAAAGTGGAAATGAAAACTCCGGCTACAATTCAGATGAACAAAAGACCACAGAC
ACCGCTTCTCTCCCTCCCAAATCCTGTGAATCCAGTGATCCTGAACAAAGAAACAGTAGCTGTGGCCCTCCTCACCAGCGGGCTGATCAACGTCCACCCAGGCCA
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>IGSF5|150084|protein
MGQKERSTADTLPDLEEWKSAAGLRWWQTAVVDGSGSGNEVIEGPQNARVLKGSQARFNCTVSQGWKLIMWALSDMVVLSVRPMEPIITNDRFTSQRYDQGGNFT
SEMIIHNVEPSDSGNIRCSLQNSRLHGSAYLTVQVMGELFIPSVNLVVAENEPCEVTCLPSHWTRLPDISWELGLLVSHSSYYFVPEPSDLQSAVSILALTPQSN
GTLTCVATWKSLKARKSATVNLTVIRCPQDTGGGINIPGVLSSLPSLGFSLPTWGKVGLGLAGTMLLTPTCTLTIRCCCCRRRCCGCNCCCRCCFCCRRKRGFRI
QFQKKSEKEKTNKETETESGNENSGYNSDEQKTTDTASLPPKSCESSDPEQRNSSCGPPHQRADQRPPRPASHPQASFNLASPEKVSNTTVV

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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 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (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
Jacquemont, 2006 France aCGHASD - - - - 29 - 29
Linkage Studies Top