AutismKB 2.0

Evidence Details for ITGB5


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Basic Information Top
Gene Symbol:ITGB5 ( FLJ26658 )
Gene Full Name: integrin, beta 5
Band: 3q21.2
Quick LinksEntrez ID:3693; OMIM: 147561; Uniprot ID:ITB5_HUMAN; ENSEMBL ID: ENSG00000082781; HGNC ID: 6160
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ITGB5|3693|nucleotide
ATGCCGCGGGCCCCGGCGCCGCTGTACGCCTGCCTCCTGGGGCTCTGCGCGCTCCTGCCCCGGCTCGCAGGTCTCAACATATGCACTAGTGGAAGTGCCACCTCA
TGTGAAGAATGTCTGCTAATCCACCCAAAATGTGCCTGGTGCTCCAAAGAGGACTTCGGAAGCCCACGGTCCATCACCTCTCGGTGTGATCTGAGGGCAAACCTT
GTCAAAAATGGCTGTGGAGGTGAGATAGAGAGCCCAGCCAGCAGCTTCCATGTCCTGAGGAGCCTGCCCCTCAGCAGCAAGGGTTCGGGCTCTGCAGGCTGGGAC
GTCATTCAGATGACACCACAGGAGATTGCCGTGAACCTCCGGCCCGGTGACAAGACCACCTTCCAGCTACAGGTTCGCCAGGTGGAGGACTATCCTGTGGACCTG
TACTACCTGATGGACCTCTCCCTGTCCATGAAGGATGACTTGGACAATATCCGGAGCCTGGGCACCAAACTCGCGGAGGAGATGAGGAAGCTCACCAGCAACTTC
CGGTTGGGATTTGGGTCTTTTGTTGATAAGGACATCTCTCCTTTCTCCTACACGGCACCGAGGTACCAGACCAATCCGTGCATTGGTTACAAGTTGTTTCCAAAT
TGCGTCCCCTCCTTTGGGTTCCGCCATCTGCTGCCTCTCACAGACAGAGTGGACAGCTTCAATGAGGAAGTTCGGAAACAGAGGGTGTCCCGGAACCGAGATGCC
CCTGAGGGGGGCTTTGATGCAGTACTCCAGGCAGCCGTCTGCAAGGAGAAGATTGGCTGGCGAAAGGATGCACTGCATTTGCTGGTGTTCACAACAGATGATGTG
CCCCACATCGCATTGGATGGAAAATTGGGAGGCCTGGTGCAGCCACACGATGGCCAGTGCCACCTGAACGAGGCCAACGAGTACACTGCATCCAACCAGATGGAC
TATCCATCCCTTGCCTTGCTTGGAGAGAAATTGGCAGAGAACAACATCAACCTCATCTTTGCAGTGACAAAAAACCATTATATGCTGTACAAGAATTTTACAGCC
CTGATACCTGGAACAACGGTGGAGATTTTAGATGGAGACTCCAAAAATATTATTCAACTGATTATTAATGCATACAATAGTATCCGGTCTAAAGTGGAGTTGTCA
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>ITGB5|3693|protein
MPRAPAPLYACLLGLCALLPRLAGLNICTSGSATSCEECLLIHPKCAWCSKEDFGSPRSITSRCDLRANLVKNGCGGEIESPASSFHVLRSLPLSSKGSGSAGWD
VIQMTPQEIAVNLRPGDKTTFQLQVRQVEDYPVDLYYLMDLSLSMKDDLDNIRSLGTKLAEEMRKLTSNFRLGFGSFVDKDISPFSYTAPRYQTNPCIGYKLFPN
CVPSFGFRHLLPLTDRVDSFNEEVRKQRVSRNRDAPEGGFDAVLQAAVCKEKIGWRKDALHLLVFTTDDVPHIALDGKLGGLVQPHDGQCHLNEANEYTASNQMD
YPSLALLGEKLAENNINLIFAVTKNHYMLYKNFTALIPGTTVEILDGDSKNIIQLIINAYNSIRSKVELSVWDQPEDLNLFFTATCQDGVSYPGQRKCEGLKIGD
TASFEVSLEARSCPSRHTEHVFALRPVGFRDSLEVGVTYNCTCGCSVGLEPNSARCNGSGTYVCGLCECSPGYLGTRCECQDGENQSVYQNLCREAEGKPLCSGR
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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) 2 (2) 0 (1) 0 (0) 0 (0) 0 (0) 2 (4)
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 - - - - -
Linkage Studies Top