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