AutismKB 2.0

Evidence Details for SGIP1


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Basic Information Top
Gene Symbol:SGIP1 ( DKFZp686A16142,DKFZp761D221,FLJ33378,FLJ43054 )
Gene Full Name: SH3-domain GRB2-like (endophilin) interacting protein 1
Band: 1p31.3
Quick LinksEntrez ID:84251; OMIM: 611540; Uniprot ID:SGIP1_HUMAN; ENSEMBL ID: ENSG00000118473; HGNC ID: 25412
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SGIP1|84251|nucleotide
ATGATGGAAGGATTGAAAAAACGTACAAGGAAGGCCTTTGGAATACGGAAGAAAGAAAAGGACACTGATTCTACAGGTTCACCAGATAGAGATGGAATTCAGCCC
AGCCCACACGAACCACCCTACAATAGCAAAGCAGAGTGTGCGCGTGAAGGAGGAAAAAAAGTTTCGAAGAAAAGCAATGGGGCACCAAATGGATTTTATGCGGAA
ATTGATTGGGAAAGATATAACTCACCTGAGCTGGATGAAGAAGGCTACAGCATCAGACCCGAGGAACCCGGCTCTACCAAAGGAAAGCACTTTTATTCTTCAAGT
GAATCGGAAGAAGAAGAAGAATCACATAAGAAATTTAATATCAAGATTAAACCATTGCAATCTAAAGACATTCTTAAGAATGCTGCAACTGTAGATGAATTGAAG
GCATCAATAGGCAACATCGCACTTTCCCCATCACCAGTGAGGAAAAGTCCGAGGCGCAGCCCGGGTGCAATTAAAAGGAACTTATCCAGTGAAGAAGTGGCAAGA
CCCAGGCGTTCCACACCAACTCCAGAACTTATAAGCAAAAAGCCTCCAGATGACACTACGGCCCTTGCTCCTCTCTTTGGCCCACCACTAGAATCAGCTTTTGAT
GAACAGAAGACAGAAGTTCTTTTAGATCAGCCTGAGATATGGGGTTCAGGCCAACCAATTAATCCAAGCATGGAGTCGCCAAAGTTAACAAGGCCTTTTCCCACT
GGAACACCTCCACCACTGCCTCCAAAAAATGTACCAGCTACCCCACCCCGAACAGGATCCCCCTTAACAATTGGACCAGGAAATGACCAGTCAGCCACAGAGGTC
AAAATTGAAAAACTACCATCCATCAATGACTTGGACAGCATTTTTGGGCCAGTATTGTCCCCCAAGTCTGTTGCTGTTAATGCTGAAGAAAAGTGGGTCCATTTT
TCTGATACATCCCCGGAACATGTTACTCCGGAGTTGACTCCAAGGGAAAAAGTGGTGTCCCCACCAGCTACACCAGACAACCCAGCTGACTCCCCAGCTCCAGGC
CCTCTCGGCCCCCCAGGTCCCACAGGCCCCCCAGGGCCTCCTGGGCCTCCTCGCAATGTACTATCGCCGCTCAATTTAGAAGAAGTCCAGAAGAAAGTCGCTGAG
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>SGIP1|84251|protein
MMEGLKKRTRKAFGIRKKEKDTDSTGSPDRDGIQPSPHEPPYNSKAECAREGGKKVSKKSNGAPNGFYAEIDWERYNSPELDEEGYSIRPEEPGSTKGKHFYSSS
ESEEEEESHKKFNIKIKPLQSKDILKNAATVDELKASIGNIALSPSPVRKSPRRSPGAIKRNLSSEEVARPRRSTPTPELISKKPPDDTTALAPLFGPPLESAFD
EQKTEVLLDQPEIWGSGQPINPSMESPKLTRPFPTGTPPPLPPKNVPATPPRTGSPLTIGPGNDQSATEVKIEKLPSINDLDSIFGPVLSPKSVAVNAEEKWVHF
SDTSPEHVTPELTPREKVVSPPATPDNPADSPAPGPLGPPGPTGPPGPPGPPRNVLSPLNLEEVQKKVAEQTFIKDDYLETISSPKDFGLGQRATPPPPPPPTYR
TVVSSPGPGSGPGPGTTSGASSPARPATPLVPCRSTTPPPPPPRPPSRPKLPPGKPGVGDVSRPFSPPIHSSSPPPIAPLARAESTSSISSTNSLSAATTPTVEN
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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 (0) 0 (0) 0 (0) 0 (0) (0)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top