AutismKB 2.0

Evidence Details for SH3BP4


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Basic Information Top
Gene Symbol:SH3BP4 ( BOG25,TTP )
Gene Full Name: SH3-domain binding protein 4
Band: 2q37.2
Quick LinksEntrez ID:23677; OMIM: 605611; Uniprot ID:SH3B4_HUMAN; ENSEMBL ID: ENSG00000130147; HGNC ID: 10826
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SH3BP4|23677|nucleotide
ATGGCGGCTCAGCGGATCCGAGCGGCCAACTCCAATGGCCTCCCTCGCTGCAAGTCAGAGGGGACCCTGATTGACCTGAGCGAAGGGTTTTCAGAGACGAGCTTT
AATGACATCAAAGTGCCTTCTCCCAGTGCCTTGCTCGTAGACAACCCCACACCTTTCGGAAATGCAAAGGAAGTGATTGCGATCAAGGACTATTGCCCCACCAAC
TTCACCACACTGAAGTTCTCCAAGGGCGACCATCTCTACGTCTTGGACACATCTGGCGGTGAGTGGTGGTACGCACACAACACCACCGAAATGGGCTACATCCCC
TCCTCCTATGTGCAGCCCTTGAACTACCGGAACTCAACACTGAGTGACAGCGGTATGATTGATAATCTTCCAGACAGCCCAGACGAGGTAGCCAAGGAGCTGGAG
CTGCTCGGGGGATGGACAGATGACAAAAAAGTACCAGGCAGAATGTACAGTAATAACCCTTTCTGGAATGGGGTCCAGACCAATCCATTTCTGAATGGGAACGTG
CCCGTCATGCCCAGCCTGGATGAGCTGAATCCCAAAAGTACTGTGGATTTGCTCCTTTTTGACGCAGGTACATCCTCCTTCACCGAATCCAGCTCAGCCACCACG
AATAGCACTGGCAACATCTTCGATGAGCTTCCAGTCACAAACGGACTCCACGCAGAGCCGCCGGTCAGGCGGGACAACCCCTTCTTCAGAAGCAAGCGCTCCTAC
AGTCTCTCGGAACTCTCCGTCCTCCAAGCCAAGTCCGATGCTCCCACATCGTCGAGTTTCTTCACCGGCTTGAAATCACCTGCCCCCGAGCAATTTCAGAGCCGG
GAGGATTTTCGAACTGCCTGGCTAAACCACAGGAAGCTGGCCCGGTCTTGCCACGACCTGGACTTGCTTGGCCAAAGCCCTGGTTGGGGCCAGACCCAAGCCGTG
GAGACAAACATCGTGTGCAAGCTGGATAGCTCCGGGGGTGCTGTCCAGCTTCCTGACACCAGCATCAGCATCCACGTGCCCGAGGGCCACGTCGCCCCTGGGGAG
ACCCAGCAGATCTCCATGAAAGCCCTGCTGGACCCCCCGCTGGAGCTCAACAGTGACAGGTCCTGCAGCATCAGCCCTGTGCTGGAGGTCAAGCTGAGCAACCTG
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>SH3BP4|23677|protein
MAAQRIRAANSNGLPRCKSEGTLIDLSEGFSETSFNDIKVPSPSALLVDNPTPFGNAKEVIAIKDYCPTNFTTLKFSKGDHLYVLDTSGGEWWYAHNTTEMGYIP
SSYVQPLNYRNSTLSDSGMIDNLPDSPDEVAKELELLGGWTDDKKVPGRMYSNNPFWNGVQTNPFLNGNVPVMPSLDELNPKSTVDLLLFDAGTSSFTESSSATT
NSTGNIFDELPVTNGLHAEPPVRRDNPFFRSKRSYSLSELSVLQAKSDAPTSSSFFTGLKSPAPEQFQSREDFRTAWLNHRKLARSCHDLDLLGQSPGWGQTQAV
ETNIVCKLDSSGGAVQLPDTSISIHVPEGHVAPGETQQISMKALLDPPLELNSDRSCSISPVLEVKLSNLEVKTSIILEMKVSAEIKNDLFSKSTVGLQCLRSDS
KEGPYVSVPLNCSCGDTVQAQLHNLEPCMYVAVVAHGPSILYPSTVWDFINKKVTVGLYGPKHIHPSFKTVVTIFGHDCAPKTLLVSEVTRQAPNPAPVALQLWG
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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) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top