AutismKB 2.0

Evidence Details for MTRF1L


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Basic Information Top
Gene Symbol:MTRF1L ( MGC102748,MRF1L,mtRF1a )
Gene Full Name: mitochondrial translational release factor 1-like
Band: 6q25.2
Quick LinksEntrez ID:54516; OMIM: 613542; Uniprot ID:RF1ML_HUMAN; ENSEMBL ID: ENSG00000112031; HGNC ID: 21051
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MTRF1L|54516|nucleotide
ATGCGGTCCCGGGTTCTGTGGGGCGCTGCCCGGTGGCTCTGGCCCCGCCGGGCCGTTGGCCCAGCCCGCCGGCCCCTGAGCTCCGGTAGCCCGCCGCTGGAGGAG
CTGTTCACCCGGGGCGGGCCCTTGCGGACCTTCCTCGAGCGCCAGGCGGGGTCTGAAGCCCATTTGAAGGTCAGGAGGCCCGAGTTGCTGGCGGTGATCAAACTG
CTGAACGAGAAGGAGCGGGAGCTGCGGGAGACTGAGCACTTGCTGCACGATGAGAATGAAGATTTAAGGAAACTTGCAGAGAATGAAATCACTTTGTGTCAAAAA
GAAATAACTCAGCTGAAGCATCAGATTATCTTACTTTTGGTTCCCTCAGAAGAAACAGATGAAAATGATTTGATCCTGGAAGTAACTGCAGGAGTTGGAGGTCAG
GAGGCAATGTTGTTTACATCAGAGATATTTGATATGTATCAGCAATATGCTGCATTTAAAAGATGGCATTTTGAAACCCTGGAATATTTTCCAAGTGAACTAGGT
GGCCTTAGACATGCATCTGCCAGCATTGGGGGTTCAGAAGCCTATAGGCACATGAAATTTGAAGGAGGTGTTCACAGAGTACAAAGAGTGCCAAAGACAGAAAAG
CAAGGCCGCGTCCATACTAGCACCATGACTGTAGCAATATTACCCCAGCCTACTGAGATTAATCTGGTGATTAATCCGAAAGATTTGAGAATTGACACTAAGCGA
GCCAGTGGAGCTGGGGGGCAGCATGTAAATACCACGGACAGTGCTGTCCGGATAGTTCATCTTCCAACAGATTGGAAGTAA



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>MTRF1L|54516|protein
MRSRVLWGAARWLWPRRAVGPARRPLSSGSPPLEELFTRGGPLRTFLERQAGSEAHLKVRRPELLAVIKLLNEKERELRETEHLLHDENEDLRKLAENEITLCQK
EITQLKHQIILLLVPSEETDENDLILEVTAGVGGQEAMLFTSEIFDMYQQYAAFKRWHFETLEYFPSELGGLRHASASIGGSEAYRHMKFEGGVHRVQRVPKTEK
QGRVHTSTMTVAILPQPTEINLVINPKDLRIDTKRASGAGGQHVNTTDSAVRIVHLPTDWK


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