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
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
Fromer M, 2014 - - 94 De novo mutations in schizophrenia implicate synaptic networks.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018