AutismKB 2.0

Evidence Details for CAPRIN1


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Basic Information Top
Gene Symbol:CAPRIN1 ( GPIAP1,GPIP137,M11S1,RNG105,caprin-1,p137GPI )
Gene Full Name: cell cycle associated protein 1
Band: 11p13
Quick LinksEntrez ID:4076; OMIM: 601178; Uniprot ID:CAPR1_HUMAN; ENSEMBL ID: ENSG00000135387; HGNC ID: 6743
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CAPRIN1|4076|nucleotide
ATGCCCTCGGCCACCAGCCACAGCGGGAGCGGCAGCAAGTCGTCCGGACCGCCACCGCCGTCGGGTTCCTCCGGGAGTGAGGCGGCCGCGGGAGCCGGGGCCGCC
GCGCCGGCTTCTCAGCACCCCGCAACCGGCACCGGCGCTGTCCAGACCGAGGCCATGAAGCAGATTCTCGGGGTGATCGACAAGAAACTTCGGAACCTGGAGAAG
AAAAAGGGTAAGCTTGATGATTACCAGGAACGAATGAACAAAGGGGAAAGGCTTAATCAAGATCAGCTGGATGCCGTTTCTAAGTACCAGGAAGTCACAAATAAT
TTGGAGTTTGCAAAAGAATTACAGAGGAGTTTCATGGCACTAAGTCAAGATATTCAGAAAACAATAAAGAAGACAGCACGTCGGGAGCAGCTTATGAGAGAAGAA
GCTGAACAGAAACGTTTAAAAACTGTACTTGAGCTACAGTATGTTTTGGACAAATTGGGAGATGATGAAGTGCGGACTGACCTGAAACAAGGTTTGAATGGAGTG
CCAATATTGTCCGAAGAGGAGTTGTCATTGTTGGATGAATTCTATAAGCTAGTAGACCCTGAACGGGACATGAGCTTGAGGTTGAATGAACAGTATGAACATGCC
TCCATTCACCTGTGGGACCTGCTGGAAGGGAAGGAAAAACCTGTATGTGGAACCACCTATAAAGTTCTAAAGGAAATTGTTGAGCGTGTTTTTCAGTCAAACTAC
TTTGACAGCACCCACAACCACCAGAATGGGCTGTGTGAGGAAGAAGAGGCAGCCTCAGCACCTGCAGTTGAAGACCAGGTACCTGAAGCTGAACCTGAGCCAGCA
GAAGAGTACACTGAGCAAAGTGAAGTTGAATCAACAGAGTATGTAAATAGACAGTTCATGGCAGAAACACAGTTCACCAGTGGTGAAAAGGAGCAGGTAGATGAG
TGGACAGTTGAAACGGTTGAGGTGGTAAATTCACTCCAGCAGCAACCTCAGGCTGCATCCCCTTCAGTACCAGAGCCCCACTCTTTGACTCCAGTGGCTCAGGCA
GATCCCCTTGTGAGAAGACAGCGAGTACAAGACCTTATGGCACAAATGCAGGGTCCCTATAATTTCATACAGGATTCAATGCTGGATTTTGAAAATCAGACACTT
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>CAPRIN1|4076|protein
MPSATSHSGSGSKSSGPPPPSGSSGSEAAAGAGAAAPASQHPATGTGAVQTEAMKQILGVIDKKLRNLEKKKGKLDDYQERMNKGERLNQDQLDAVSKYQEVTNN
LEFAKELQRSFMALSQDIQKTIKKTARREQLMREEAEQKRLKTVLELQYVLDKLGDDEVRTDLKQGLNGVPILSEEELSLLDEFYKLVDPERDMSLRLNEQYEHA
SIHLWDLLEGKEKPVCGTTYKVLKEIVERVFQSNYFDSTHNHQNGLCEEEEAASAPAVEDQVPEAEPEPAEEYTEQSEVESTEYVNRQFMAETQFTSGEKEQVDE
WTVETVEVVNSLQQQPQAASPSVPEPHSLTPVAQADPLVRRQRVQDLMAQMQGPYNFIQDSMLDFENQTLDPAIVSAQPMNPTQNMDMPQLVCPPVHSESRLAQP
NQVPVQPEATQVPLVSSTSEGYTASQPLYQPSHATEQRPQKEPIDQIQATISLNTDQTTASSSLPAASQPQVFQAGTSKPLHSSGINVNAAPFQSMQTVFNMNAP
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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) 0 (4) 0 (0) 0 (0) 0 (0) 2 (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