AutismKB 2.0

Evidence Details for RHBDL3


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Basic Information Top
Gene Symbol:RHBDL3 ( FLJ45582,MGC119300,MGC119301,RHBDL4,VRHO )
Gene Full Name: rhomboid, veinlet-like 3 (Drosophila)
Band: 17q11.2
Quick LinksEntrez ID:162494; OMIM: NA; Uniprot ID:RHBL3_HUMAN; ENSEMBL ID: ENSG00000141314; HGNC ID: 16502
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RHBDL3|162494|nucleotide
ATGGGCGAGCACCCCAGCCCGGGCCCCGCGGTGGCCGCCTGCGCCGAGGCGGAGCGCATCGAGGAGCTGGAACCCGAGGCCGAGGAGCGGCTGCCCGCGGCGCCG
GAGGACCACTGGAAAGTCCTGTTTGATCAGTTTGACCCTGGGAACACAGGCTACATTAGCACAGGCAAGTTCCGGAGTCTTCTGGAGAGCCACAGCTCCAAGCTG
GACCCGCACAAAAGGGAGGTCCTCCTGGCTCTTGCCGACAGCCACGCGGATGGGCAGATCGGCTACCAGGATTTTGTCAGCCTAATGAGCAACAAGCGTTCCAAC
AGCTTCCGCCAAGCCATCCTGCAGGGCAACCGCAGGCTAAGCAGCAAGGCCCTGCTGGAGGAGAAGGGGCTGAGCCTCTCGCAGCGACTTATCCGCCATGTGGCC
TATGAGACCCTGCCCCGGGAAATTGACCGCAAGTGGTACTATGACAGCTACACCTGCTGCCCCCCACCCTGGTTCATGATCACAGTCACGCTGCTGGAGGTTGCC
TTTTTCCTCTACAATGGGGTGTCACTAGGTCAATTTGTACTGCAGGTAACTCATCCACGTTACTTGAAGAACTCCCTGGTTTACCACCCACAGCTGCGAGCACAG
GTTTGGCGCTACCTGACATACATCTTCATGCATGCAGGGATAGAACACCTGGGACTCAATGTGGTGCTGCAGCTGCTGGTGGGGGTGCCCCTGGAGATGGTGCAT
GGAGCCACCCGAATTGGGCTTGTCTACGTGGCCGGTGTTGTGGCAGGGTCCTTGGCAGTGTCTGTGGCTGACATGACCGCTCCAGTCGTGGGCTCTTCTGGAGGG
GTGTATGCTCTCGTCTCTGCCCATCTGGCCAACATTGTCATGAACTGGTCAGGCATGAAGTGCCAGTTCAAGCTGCTGCGGATGGCTGTGGCCCTTATCTGTATG
AGCATGGAGTTTGGGCGGGCCGTGTGGCTCCGCTTCCACCCGTCGGCCTATCCCCCGTGCCCTCACCCAAGCTTTGTGGCGCACTTGGGTGGCGTGGCCGTGGGC
ATCACCCTGGGCGTGGTGGTCCTGAGGAACTACGAGCAGAGGCTCCAGGACCAGTCACTGTGGTGGATTTTTGTGGCCATGTACACCGTCTTCGTGCTGTTCGCT
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>RHBDL3|162494|protein
MGEHPSPGPAVAACAEAERIEELEPEAEERLPAAPEDHWKVLFDQFDPGNTGYISTGKFRSLLESHSSKLDPHKREVLLALADSHADGQIGYQDFVSLMSNKRSN
SFRQAILQGNRRLSSKALLEEKGLSLSQRLIRHVAYETLPREIDRKWYYDSYTCCPPPWFMITVTLLEVAFFLYNGVSLGQFVLQVTHPRYLKNSLVYHPQLRAQ
VWRYLTYIFMHAGIEHLGLNVVLQLLVGVPLEMVHGATRIGLVYVAGVVAGSLAVSVADMTAPVVGSSGGVYALVSAHLANIVMNWSGMKCQFKLLRMAVALICM
SMEFGRAVWLRFHPSAYPPCPHPSFVAHLGGVAVGITLGVVVLRNYEQRLQDQSLWWIFVAMYTVFVLFAVFWNIFAYTLLDLKLPPPP

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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) 2 (6) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 5 (7)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top