Evidence Details for MTRF1
Basic Information Top
| Gene Symbol: | MTRF1 ( MGC47721,MRF1,MTTRF1,RF1 ) |
|---|---|
| Gene Full Name: | mitochondrial translational release factor 1 |
| Band: | 13q14.11 |
| Quick Links | Entrez ID:9617; OMIM: 604601; Uniprot ID:RF1M_HUMAN; ENSEMBL ID: ENSG00000120662; HGNC ID: 7469 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>MTRF1|9617|nucleotide
ATGAATCGTCACCTGTGTGTTTGGCTTTTTAGACATCCATCTCTTAATGGTTACCTCCAGTGTCACATCCAGCTCCATTCTCATCAATTTAGACAGATACATCTT
GATACAAGGCTGCAAGTTTTTAGACAAAACAGGAATTGCATTCTTCATCTGTTAAGTAAGAATTGGTCCAGGAGATATTGCCATCAAGACACCAAGATGCTCTGG
AAGCATAAAGCACTACAGAAATATATGGAGAACCTGAGTAAGGAGTACCAAACACTTGAGCAATGTCTGCAGCATATCCCTGTGAATGAGGAAAACCGAAGGTCC
TTGAACAGAAGGCATGCTGAGTTGGCACCTCTTGCAGCCATTTACCAAGAAATTCAGGAGACTGAACAAGCAATTGAAGAATTAGAATCAATGTGTAAAAGCCTA
AATAAACAAGATGAAAAGCAGTTACAAGAACTTGCACTGGAAGAAAGGCAAACCATTGATCAAAAAATCAACATGTTGTACAATGAGCTTTTCCAGAGCCTTGTG
CCAAAGGAGAAATATGACAAAAATGATGTTATTTTAGAGGTGACAGCTGGAAGGACTACTGGAGGTGACATCTGCCAACAATTTACCCGAGAAATATTTGACATG
TACCAGAATTATTCGTGCTATAAACACTGGCAATTTGAACTTCTGAATTATACACCAGCAGATTATGGTGGACTACATCATGCAGCCGCCCGAATTTCCGGTGAC
GGTGTCTATAAGCATTTGAAGTATGAGGGTGGGATTCACCGAGTTCAGCGCATCCCCGAGGTGGGCCTGTCCTCAAGGATGCAGCGCATTCACACAGGAACGATG
TCGGTTATTGTCCTTCCTCAGCCAGATGAGGTGGATGTGAAATTGGACCCCAAGGATTTGCGAATAGATACATTTCGAGCCAAAGGAGCAGGAGGGCAGCATGTT
AATAAAACTGATAGTGCCGTCAGACTTGTCCACATCCCCACAGGGCTAGTAGTAGAATGCCAACAAGAAAGATCACAGATAAAAAATAAAGAAATAGCCTTTCGT
GTGTTGAGAGCTAGACTCTACCAGCAGATTATTGAGAAAGACAAGCGTCAGCAACAAAGTGCTAGAAAACTGCAGGTGGGAACAAGAGCCCAGTCAGAGCGAATT
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ATGAATCGTCACCTGTGTGTTTGGCTTTTTAGACATCCATCTCTTAATGGTTACCTCCAGTGTCACATCCAGCTCCATTCTCATCAATTTAGACAGATACATCTT
GATACAAGGCTGCAAGTTTTTAGACAAAACAGGAATTGCATTCTTCATCTGTTAAGTAAGAATTGGTCCAGGAGATATTGCCATCAAGACACCAAGATGCTCTGG
AAGCATAAAGCACTACAGAAATATATGGAGAACCTGAGTAAGGAGTACCAAACACTTGAGCAATGTCTGCAGCATATCCCTGTGAATGAGGAAAACCGAAGGTCC
TTGAACAGAAGGCATGCTGAGTTGGCACCTCTTGCAGCCATTTACCAAGAAATTCAGGAGACTGAACAAGCAATTGAAGAATTAGAATCAATGTGTAAAAGCCTA
AATAAACAAGATGAAAAGCAGTTACAAGAACTTGCACTGGAAGAAAGGCAAACCATTGATCAAAAAATCAACATGTTGTACAATGAGCTTTTCCAGAGCCTTGTG
CCAAAGGAGAAATATGACAAAAATGATGTTATTTTAGAGGTGACAGCTGGAAGGACTACTGGAGGTGACATCTGCCAACAATTTACCCGAGAAATATTTGACATG
TACCAGAATTATTCGTGCTATAAACACTGGCAATTTGAACTTCTGAATTATACACCAGCAGATTATGGTGGACTACATCATGCAGCCGCCCGAATTTCCGGTGAC
GGTGTCTATAAGCATTTGAAGTATGAGGGTGGGATTCACCGAGTTCAGCGCATCCCCGAGGTGGGCCTGTCCTCAAGGATGCAGCGCATTCACACAGGAACGATG
TCGGTTATTGTCCTTCCTCAGCCAGATGAGGTGGATGTGAAATTGGACCCCAAGGATTTGCGAATAGATACATTTCGAGCCAAAGGAGCAGGAGGGCAGCATGTT
AATAAAACTGATAGTGCCGTCAGACTTGTCCACATCCCCACAGGGCTAGTAGTAGAATGCCAACAAGAAAGATCACAGATAAAAAATAAAGAAATAGCCTTTCGT
GTGTTGAGAGCTAGACTCTACCAGCAGATTATTGAGAAAGACAAGCGTCAGCAACAAAGTGCTAGAAAACTGCAGGTGGGAACAAGAGCCCAGTCAGAGCGAATT
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>MTRF1|9617|protein
MNRHLCVWLFRHPSLNGYLQCHIQLHSHQFRQIHLDTRLQVFRQNRNCILHLLSKNWSRRYCHQDTKMLWKHKALQKYMENLSKEYQTLEQCLQHIPVNEENRRS
LNRRHAELAPLAAIYQEIQETEQAIEELESMCKSLNKQDEKQLQELALEERQTIDQKINMLYNELFQSLVPKEKYDKNDVILEVTAGRTTGGDICQQFTREIFDM
YQNYSCYKHWQFELLNYTPADYGGLHHAAARISGDGVYKHLKYEGGIHRVQRIPEVGLSSRMQRIHTGTMSVIVLPQPDEVDVKLDPKDLRIDTFRAKGAGGQHV
NKTDSAVRLVHIPTGLVVECQQERSQIKNKEIAFRVLRARLYQQIIEKDKRQQQSARKLQVGTRAQSERIRTYNFTQDRVSDHRIAYEVRDIKEFLCGGKGLDQL
IQRLLQSADEEAIAELLDEHLKSAK
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MNRHLCVWLFRHPSLNGYLQCHIQLHSHQFRQIHLDTRLQVFRQNRNCILHLLSKNWSRRYCHQDTKMLWKHKALQKYMENLSKEYQTLEQCLQHIPVNEENRRS
LNRRHAELAPLAAIYQEIQETEQAIEELESMCKSLNKQDEKQLQELALEERQTIDQKINMLYNELFQSLVPKEKYDKNDVILEVTAGRTTGGDICQQFTREIFDM
YQNYSCYKHWQFELLNYTPADYGGLHHAAARISGDGVYKHLKYEGGIHRVQRIPEVGLSSRMQRIHTGTMSVIVLPQPDEVDVKLDPKDLRIDTFRAKGAGGQHV
NKTDSAVRLVHIPTGLVVECQQERSQIKNKEIAFRVLRARLYQQIIEKDKRQQQSARKLQVGTRAQSERIRTYNFTQDRVSDHRIAYEVRDIKEFLCGGKGLDQL
IQRLLQSADEEAIAELLDEHLKSAK
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Evidence summary TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| 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 (1) | 1 (3) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (4) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 1
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) |  |  | ASD | - - |
- - | ||
Case Control Based Association Studies: 0
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | ||||||||||||
CNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Steele, 2001 | - | Chromosomal analysis of G-band | | | autism | - | - | - | - | 1 | - | 1 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
| Brand H, 2015 | - | CMA;WGS | - | - | ASD | - | - | - | - | 259 | - | 259 |
Linkage Studies Top