AutismKB 2.0

Evidence Details for GSPT1


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Basic Information Top
Gene Symbol:GSPT1 ( 551G9.2,ETF3A,FLJ38048,FLJ39067,GST1,eRF3a )
Gene Full Name: G1 to S phase transition 1
Band: 16p13.13
Quick LinksEntrez ID:2935; OMIM: 139259; Uniprot ID:ERF3A_HUMAN; ENSEMBL ID: ENSG00000103342; HGNC ID: 4621
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GSPT1|2935|nucleotide
ATGGATCCGGGCAGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGGAGCAGCAGCGGCAGCAGCAGCAGCGACTCGGCGCCTGACTGCTGGGACCAGGCGGAC
ATGGAAGCCCCCGGGCCGGGCCCTTGCGGCGGCGGCGGCTCCCTGGCGGCGGCGGCCGAGGCCCAGCGGGAGAACCTCAGCGCGGCCTTCAGCCGGCAACTCAAC
GTCAACGCCAAGCCCTTCGTGCCCAACGTCCACGCCGCCGAGTTCGTGCCGTCCTTCCTGCGGGGCCCGGCAGCGCCGCCACCCCCAGCTGGCGGCGCCGCCAAT
AACCACGGAGCCGGCAGCGGCGCGGGAGGCCGTGCGGCACCTGTGGAATCCTCTCAAGAGGAACAGTCATTGTGTGAAGGTTCAAATTCAGCTGTTAGCATGGAA
CTTTCAGAACCTATTGAAAATGGAGAGACAGAAATGTCTCCAGAAGAATCATGGGAGCACAAAGAAGAAATAAGTGAAGCAGAGCCAGGGGGTGGTTCCTTGGGA
GATGGAAGGCCGCCAGAGGAAAGTGCCCATGAAATGATGGAGGAGGAAGAGGAAATCCCAAAACCTAAGTCTGTGGTTGCACCGCCAGGTGCTCCTAAGAAAGAG
CATGTAAATGTAGTATTCATTGGGCACGTAGATGCTGGCAAGTCAACCATTGGAGGACAAATAATGTATTTGACTGGAATGGTTGACAAAAGGACGCTTGAAAAG
TATGAAAGAGAAGCTAAAGAGAAAAACAGAGAAACTTGGTACTTGTCTTGGGCCTTAGACACAAATCAGGAAGAACGAGACAAGGGTAAAACAGTAGAAGTGGGT
CGTGCCTATTTTGAAACCGAAAAGAAGCATTTCACAATTCTAGATGCCCCTGGCCACAAGAGTTTTGTCCCAAATATGATTGGTGGTGCCTCTCAAGCTGATTTG
GCTGTGCTGGTAATCTCAGCCAGGAAAGGAGAGTTTGAAACTGGATTTGAAAAAGGAGGACAGACAAGAGAACATGCAATGTTGGCAAAGACAGCAGGTGTAAAA
CACCTAATTGTGCTAATTAATAAGATGGATGATCCAACAGTAAATTGGAGCAATGAGAGATATGAAGAATGTAAGGAGAAACTAGTGCCATTTTTGAAAAAAGTT
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>GSPT1|2935|protein
MDPGSGGGGGGGGGGGSSSGSSSSDSAPDCWDQADMEAPGPGPCGGGGSLAAAAEAQRENLSAAFSRQLNVNAKPFVPNVHAAEFVPSFLRGPAAPPPPAGGAAN
NHGAGSGAGGRAAPVESSQEEQSLCEGSNSAVSMELSEPIENGETEMSPEESWEHKEEISEAEPGGGSLGDGRPPEESAHEMMEEEEEIPKPKSVVAPPGAPKKE
HVNVVFIGHVDAGKSTIGGQIMYLTGMVDKRTLEKYEREAKEKNRETWYLSWALDTNQEERDKGKTVEVGRAYFETEKKHFTILDAPGHKSFVPNMIGGASQADL
AVLVISARKGEFETGFEKGGQTREHAMLAKTAGVKHLIVLINKMDDPTVNWSNERYEECKEKLVPFLKKVGFNPKKDIHFMPCSGLTGANLKEQSDFCPWYIGLP
FIPYLDNLPNFNRSVDGPIRLPIVDKYKDMGTVVLGKLESGSICKGQQLVMMPNKHNVEVLGILSDDVETDTVAPGENLKIRLKGIEEEEILPGFILCDPNNLCH
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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 (3) 0 (0) 2 (2) 0 (0) 0 (0) 0 (0) 0 (0) 4 (6)
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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Monaco, 2001 - microsatellite-based genomic screenPDD 152 - 152 - - - -
Lamb, 2005 - microsatellite-based genomic screenautism 207 - 207 - 420 - -
Buxbaum, 2004 USA microsatellite-based genomic screenautism 115 - 115 - - - -
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 2
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Baron, 2006_1 America human EBV-transformed lymphoblastoid cell lines 3
(33.33%)
-autism 3
(33.33%)
-1.35 Down 0.02
  • Platform: Human Genome GeneChip U95Av2 (HG-U95Av2, Affymetrix Inc., Santa Clara, CA)
  • ProbeSet: 33932_at
  • RefSeq_ID/ EST: -
  • GEO_ID: -
  • Statistic Method: t-test using the bootstrap method, food changes
Hu, 2009_1 mixed lymphoblastoid cell lines 21
(-)
autism with nonaffected sib pairsautism 17
(-)
1.19 Up -
  • Platform: TIGR 40K Human Set
  • ProbeSet: -
  • RefSeq_ID/ EST: R93719
  • GEO_ID: GSE15402
  • Statistic Method: PCA; SAM by MEV with FDR<0.05
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
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