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 TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.