AutismKB 2.0

Evidence Details for RPH3A


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Basic Information Top
Gene Symbol:RPH3A ( KIAA0985 )
Gene Full Name: rabphilin 3A homolog (mouse)
Band: 12q24.13
Quick LinksEntrez ID:22895; OMIM: 612159; Uniprot ID:RP3A_HUMAN; ENSEMBL ID: ENSG00000089169; HGNC ID: 17056
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RPH3A|22895|nucleotide
ATGACTGACACCGTGTTCAGCAACAGTTCTAACCGTTGGATGTACCCCAGTGACCGGCCCCTTCAATCAAATGATAAAGAACAGCTCCAGGCAGGCTGGTCCGTC
CACCCCGGTGGTCAGCCTGACAGGCAGAGGAAGCAGGAAGAGCTGACTGATGAGGAGAAAGAAATCATCAACAGGGTGATTGCTCGAGCTGAGAAAATGGAAGAG
ATGGAGCAGGAGCGAATCGGACGCCTGGTGGACCGCCTAGAAAACATGAGGAAGAACGTGGCTGGAGATGGGGTGAACCGCTGCATACTGTGTGGAGAACAGCTG
GGGATGCTGGGCTCTGCCTGTGTAGTATGTGAGGACTGTAAGAAGAACGTCTGCACCAAGTGCGGAGTGGAGACCAACAACCGCCTGCATTCTGTGTGGCTCTGC
AAAATCTGCATTGAGCAGAGGGAGGTGTGGAAGCGTTCTGGAGCGTGGTTCTTCAAAGGCTTCCCCAAACAGGTCCTCCCACAGCCTATGCCTATAAAGAAGACC
AAGCCCCAGCAGCCTGTCAGTGAGCCTGCTGCCCCTGAACAGCCTGCTCCTGAGCCCAAGCACCCTGCCCGGGCTCCAGCTCGAGGTGACAGTGAAGATAGGAGG
GGCCCGGGTCAGAAGACAGGCCCTGACCCAGCCTCTGCTCCCGGGCGAGGAAACTATGGGCCTCCCGTGCGCAGGGCCTCCGAGGCACGAATGAGCTCATCTAGC
CGAGATTCAGAGAGCTGGGACCACAGTGGGGGTGCTGGAGACTCCAGCCGGAGCCCAGCAGGTTTGAGACGGGCCAACTCAGTCCAGGCCTCCAGACCTGCCCCA
GGCTCGGTGCAGAGCCCAGCGCCACCTCAGCCTGGGCAGCCAGGGACCCCAGGAGGAAGCAGACCGGGTCCTGGGCCAGCAGGACGCTTTCCAGATCAGAAGCCA
GAGGTGGCTCCGAGCGACCCTGGGACCACTGCCCCACCCCGAGAGGAGAGAACAGGGGGAGTCGGGGGCTACCCAGCAGTTGGAGCCAGAGAGGACCGAATGAGC
CACCCCTCCGGACCCTATTCCCAAGCATCTGCAGCTGCCCCCCAGCCTGCTGCAGCCCGCCAGCCACCACCCCCAGAGGAGGAGGAAGAGGAAGCCAACAGCTAC
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>RPH3A|22895|protein
MTDTVFSNSSNRWMYPSDRPLQSNDKEQLQAGWSVHPGGQPDRQRKQEELTDEEKEIINRVIARAEKMEEMEQERIGRLVDRLENMRKNVAGDGVNRCILCGEQL
GMLGSACVVCEDCKKNVCTKCGVETNNRLHSVWLCKICIEQREVWKRSGAWFFKGFPKQVLPQPMPIKKTKPQQPVSEPAAPEQPAPEPKHPARAPARGDSEDRR
GPGQKTGPDPASAPGRGNYGPPVRRASEARMSSSSRDSESWDHSGGAGDSSRSPAGLRRANSVQASRPAPGSVQSPAPPQPGQPGTPGGSRPGPGPAGRFPDQKP
EVAPSDPGTTAPPREERTGGVGGYPAVGAREDRMSHPSGPYSQASAAAPQPAAARQPPPPEEEEEEANSYDSDEATTLGALEFSLLYDQDNSSLQCTIIKAKGLK
PMDSNGLADPYVKLHLLPGASKSNKLRTKTLRNTRNPIWNETLVYHGITDEDMQRKTLRISVCDEDKFGHNEFIGETRFSLKKLKPNQRKNFNICLERVIPMKRA
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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) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (2)
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top