AutismKB 2.0

Evidence Details for RHPN2


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Basic Information Top
Gene Symbol:RHPN2 ( P76RBE,RHOBP )
Gene Full Name: rhophilin, Rho GTPase binding protein 2
Band: 19q13.12
Quick LinksEntrez ID:85415; OMIM: NA; Uniprot ID:RHPN2_HUMAN; ENSEMBL ID: ENSG00000131941; HGNC ID: 19974
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RHPN2|85415|nucleotide
ATGACCGACGCGCTGTTGCCCGCGGCCCCCCAGCCGCTGGAGAAGGAGAACGACGGCTACTTTCGGAAGGGCTGTAATCCCCTTGCACAAACCGGCCGGAGTAAA
TTGCAGAATCAAAGAGCTGCTTTGAATCAGCAGATCCTGAAAGCCGTGCGGATGAGGACCGGAGCGGAAAACCTTCTGAAAGTGGCCACAAACTCAAAGGTGCGG
GAGCAAGTGCGGCTGGAGCTGAGCTTCGTCAACTCAGACCTGCAGATGCTCAAGGAAGAGCTGGAGGGGCTGAACATCTCGGTGGGCGTCTATCAGAACACAGAG
GAGGCATTTACGATTCCCCTGATTCCTCTTGGCCTGAAGGAAACGAAAGACGTCGACTTTGCAGTCGTCCTCAAGGATTTTATCCTGGAACATTACAGTGAAGAT
GGCTATTTATATGAAGATGAAATTGCAGATCTTATGGATCTGAGACAAGCTTGTCGGACGCCTAGCCGGGATGAGGCCGGGGTGGAACTGCTGATGACATACTTC
ATCCAGCTGGGCTTTGTCGAGAGTCGATTCTTCCCGCCCACACGGCAGATGGGACTCCTGTTCACCTGGTATGACTCTCTCACCGGGGTTCCGGTCAGCCAGCAG
AACCTGCTGCTGGAGAAGGCCAGTGTCCTGTTCAACACTGGGGCCCTCTACACCCAGATTGGGACCCGGTGTGATCGGCAGACGCAGGCTGGGCTGGAGAGTGCC
ATAGATGCCTTTCAGAGAGCCGCAGGGGTTTTAAATTACCTGAAAGACACATTTACCCATACTCCAAGTTACGACATGAGCCCTGCCATGCTCAGCGTGCTCGTC
AAAATGATGCTTGCACAAGCCCAAGAAAGCGTGTTTGAGAAAATCAGCCTTCCTGGGATCCGGAATGAATTCTTCATGCTGGTGAAGGTGGCTCAGGAGGCTGCT
AAGGTGGGAGAGGTCTACCAACAGCTACACGCAGCCATGAGCCAGGCGCCGGTGAAAGAGAACATCCCCTACTCCTGGGCCAGCTTAGCCTGCGTGAAGGCCCAC
CACTACGCGGCCCTGGCCCACTACTTCACTGCCATCCTCCTCATCGACCACCAGGTGAAGCCAGGCACGGATCTGGACCACCAGGAGAAGTGCCTGTCCCAGCTC
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>RHPN2|85415|protein
MTDALLPAAPQPLEKENDGYFRKGCNPLAQTGRSKLQNQRAALNQQILKAVRMRTGAENLLKVATNSKVREQVRLELSFVNSDLQMLKEELEGLNISVGVYQNTE
EAFTIPLIPLGLKETKDVDFAVVLKDFILEHYSEDGYLYEDEIADLMDLRQACRTPSRDEAGVELLMTYFIQLGFVESRFFPPTRQMGLLFTWYDSLTGVPVSQQ
NLLLEKASVLFNTGALYTQIGTRCDRQTQAGLESAIDAFQRAAGVLNYLKDTFTHTPSYDMSPAMLSVLVKMMLAQAQESVFEKISLPGIRNEFFMLVKVAQEAA
KVGEVYQQLHAAMSQAPVKENIPYSWASLACVKAHHYAALAHYFTAILLIDHQVKPGTDLDHQEKCLSQLYDHMPEGLTPLATLKNDQQRRQLGKSHLRRAMAHH
EESVREASLCKKLRSIEVLQKVLCAAQERSRLTYAQHQEEDDLLNLIDAPSVVAKTEQEVDIILPQFSKLTVTDFFQKLGPLSVFSANKRWTPPRSIRFTAEEGD
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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 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top