AutismKB 2.0

Evidence Details for SH3GLB1


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Basic Information Top
Gene Symbol:SH3GLB1 ( Bif-1,KIAA0491,dJ612B15.2 )
Gene Full Name: SH3-domain GRB2-like endophilin B1
Band: 1p22.3
Quick LinksEntrez ID:51100; OMIM: 609287; Uniprot ID:SHLB1_HUMAN; ENSEMBL ID: ENSG00000097033; HGNC ID: 10833
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SH3GLB1|51100|nucleotide
ATGAATATCATGGACTTCAACGTGAAGAAGCTGGCGGCCGACGCAGGCACCTTCCTCAGTCGCGCCGTGCAGTTCACAGAAGAAAAGCTTGGCCAGGCTGAGAAG
ACAGAATTGGATGCTCACTTAGAGAACCTCCTTAGCAAAGCTGAATGTACCAAAATATGGACAGAAAAAATAATGAAACAAACTGAAGTGTTATTGCAGCCAAAT
CCAAATGCCAGGATAGAAGAATTTGTTTATGAGAAACTGGATAGAAAAGCTCCAAGTCGTATAAACAACCCAGAACTTTTGGGACAATATATGATTGATGCAGGG
ACTGAGTTTGGCCCAGGAACAGCTTATGGTAATGCCCTTATTAAATGTGGAGAAACCCAAAAAAGAATTGGAACAGCAGACAGAGAACTGATTCAAACGTCAGCC
TTAAATTTTCTTACTCCTTTAAGAAACTTTATAGAAGGAGATTACAAAACAATTGCTAAAGAAAGGAAACTATTGCAAAATAAGAGACTGGATTTGGATGCTGCA
AAAACGAGACTAAAAAAGGCAAAAGCTGCAGAAACTAGAAATTCATCTGAACAGGAATTAAGAATAACTCAAAGTGAATTTGATCGTCAAGCAGAGATTACCAGA
CTTCTGCTAGAGGGAATCAGCAGTACACATGCCCATCACCTTCGCTGTCTGAATGACTTTGTAGAAGCCCAGATGACTTACTATGCACAGTGTTACCAGTATATG
TTGGACCTCCAGAAACAACTGGGAAGTTTTCCATCCAATTATCTTAGTAACAACAATCAGACTTCTGTGACACCTGTACCATCAGTTTTACCAAATGCGATTGGT
TCTTCTGCCATGGCTTCAACAAGTGGCCTAGTAATCACCTCTCCTTCCAACCTCAGTGACCTTAAGGAGTGTAGTGGCAGCAGAAAGGCCAGGGTTCTCTATGAT
TATGATGCAGCAAACAGTACTGAATTATCACTTCTGGCAGATGAGGTGATCACTGTGTTCAGTGTTGTTGGAATGGATTCAGACTGGCTAATGGGGGAAAGGGGA
AACCAGAAGGGCAAGGTGCCAATTACCTACTTAGAACTGCTCAATTAA
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>SH3GLB1|51100|protein
MNIMDFNVKKLAADAGTFLSRAVQFTEEKLGQAEKTELDAHLENLLSKAECTKIWTEKIMKQTEVLLQPNPNARIEEFVYEKLDRKAPSRINNPELLGQYMIDAG
TEFGPGTAYGNALIKCGETQKRIGTADRELIQTSALNFLTPLRNFIEGDYKTIAKERKLLQNKRLDLDAAKTRLKKAKAAETRNSSEQELRITQSEFDRQAEITR
LLLEGISSTHAHHLRCLNDFVEAQMTYYAQCYQYMLDLQKQLGSFPSNYLSNNNQTSVTPVPSVLPNAIGSSAMASTSGLVITSPSNLSDLKECSGSRKARVLYD
YDAANSTELSLLADEVITVFSVVGMDSDWLMGERGNQKGKVPITYLELLN

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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 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top