AutismKB 2.0

Evidence Details for SCAF1


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Basic Information Top
Gene Symbol:SCAF1 ( FLJ00034,SRA1 )
Gene Full Name: SR-related CTD-associated factor 1
Band: 19q13.3-q13.4
Quick LinksEntrez ID:58506; OMIM: NA; Uniprot ID:SFR19_HUMAN; ENSEMBL ID: ENSG00000126461; HGNC ID: 30403
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SCAF1|58506|nucleotide
ATGGAGGAAGAAGATGAGTCTCGAGGGAAGACAGAGGAGTCGGGGGAGGATCGGGGCGATGGTCCGCCAGACAGAGACCCCACGCTTTCTCCTTCTGCCTTTATC
CTGCGAGCCATCCAGCAGGCTGTGGGAAGCTCCCTGCAGGGGGACCTGCCCAATGATAAAGATGGCTCTCGGTGTCATGGCCTTCGATGGCGGCGCTGCCGGAGT
CCACGGTCAGAGCCCCGTTCCCAGGAATCAGGGGGCACTGACACGGCTACTGTGTTGGACATGGCCACGGACAGCTTCCTCGCAGGGCTGGTGAGTGTCCTGGAT
CCCCCGGATACCTGGGTTCCCAGCCGCCTGGACCTGCGGCCTGGCGAAAGTGAGGACATGCTGGAGCTGGTGGCTGAGGTCCGAATCGGGGACAGAGATCCCATC
CCTCTGCCTGTGCCCAGCCTGCTGCCCCGTCTCAGGGCCTGGAGGACGGGCAAAACGGTTTCTCCACAGTCGAACTCCTCTAGGCCCACCTGTGCCCGTCACCTC
ACCTTGGGCACGGGAGACGGGGGCCCTGCCCCACCCCCTGCCCCCTCCTCTGCATCCTCCTCCCCTTCCCCTTCTCCCTCATCTTCCTCCCCTTCCCCTCCCCCA
CCCCCACCGCCCCCTGCACCCCCAGCCCCACCTGCCCCCCGATTCGATATCTATGACCCCTTCCACCCCACCGACGAGGCCTACTCTCCACCGCCTGCTCCGGAG
CAAAAGTACGACCCTTTTGAGCCCACCGGCTCCAACCCCAGCTCATCAGCGGGGACCCCCTCACCTGAGGAGGAAGAGGAGGAGGAAGAGGAAGAAGAAGAGGAA
GAGGAAGACGAGGAGGAGGAGGAAGGCCTGTCCCAGAGCATCAGCCGCATCTCGGAGACCCTGGCGGGCATCTACGATGACAACAGCCTGAGCCAGGACTTCCCA
GGTGACGAGAGCCCCCGCCCGGACGCGCAGCCCACACAGCCGACTCCCGCCCCTGGAACGCCGCCCCAGGTGGACTCCACCCGGGCTGATGGAGCCATGCGCCGG
CGGGTCTTCGTGGTGGGGACCGAGGCAGAGGCTTGTCGGGAAGGCAAGGTCTCGGTGGAGGTGGTGACCGCTGGTGGAGCCGCCCTCCCGCCGCCCCTGCTGCCG
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>SCAF1|58506|protein
MEEEDESRGKTEESGEDRGDGPPDRDPTLSPSAFILRAIQQAVGSSLQGDLPNDKDGSRCHGLRWRRCRSPRSEPRSQESGGTDTATVLDMATDSFLAGLVSVLD
PPDTWVPSRLDLRPGESEDMLELVAEVRIGDRDPIPLPVPSLLPRLRAWRTGKTVSPQSNSSRPTCARHLTLGTGDGGPAPPPAPSSASSSPSPSPSSSSPSPPP
PPPPPAPPAPPAPRFDIYDPFHPTDEAYSPPPAPEQKYDPFEPTGSNPSSSAGTPSPEEEEEEEEEEEEEEEDEEEEEGLSQSISRISETLAGIYDDNSLSQDFP
GDESPRPDAQPTQPTPAPGTPPQVDSTRADGAMRRRVFVVGTEAEACREGKVSVEVVTAGGAALPPPLLPPGDSEIEEGEIVQPEEEPRLALSLFRPGGRAARPT
PAASATPTAQPLPQPPAPRAPEGDDFLSLHAESDGEGALQVDLGEPAPAPPAADSRWGGLDLRRKILTQRRERYRQRSPSPAPAPAPAAAAGPPTRKKSRRERKR
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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) 1 (1) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 12 (3)
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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Spence, 2006 USA microsatellite-based genomic screenASD 133 - 133 - 280 - -
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
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