AutismKB 2.0

Evidence Details for MTERF


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Basic Information Top
Gene Symbol:MTERF ( MGC131634 )
Gene Full Name: mitochondrial transcription termination factor
Band: 7q21-q22
Quick LinksEntrez ID:7978; OMIM: 602318; Uniprot ID:MTERF_HUMAN; ENSEMBL ID: ENSG00000127989; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MTERF|7978|nucleotide
ATGCAGAGCCTTTCCTTAGGACAAACAAGCATTTCAAAAGGTTTGAACTACCTAACCATTATGGCACCAGGAAACCTCTGGCATATGAGAAATAACTTTCTCTTT
GGTTCAAGATGTTGGATGACTCGATTTTCAGCAGAAAACATCTTCAAATCAGTTTCATTTAGGCTTTTTGGTGTGAAGTGTCATAATACAGACAGTGAGCCTTTG
AAAAATGAGGACCTACTGAAAAACTTACTTACTATGGGAGTAGATATTGACATGGCAAGGAAACGACAGCCTGGAGTTTTTCATAGGATGATTACCAATGAGCAG
GACCTGAAGATGTTCCTTCTTTCCAAAGGAGCTAGCAAAGAAGTGATCGCTAGCATCATATCAAGATATCCACGAGCAATAACACGTACTCCCGAGAATCTTTCA
AAACGGTGGGATCTGTGGAGAAAGATTGTGACATCAGACCTTGAAATTGTAAATATTTTGGAACGTTCTCCTGAATCCTTTTTTCGGTCCAATAACAACCTAAAC
TTAGAGAATAATATAAAGTTCCTCTACTCAGTTGGATTGACCCGTAAATGCCTTTGTCGATTGTTGACCAATGCCCCTCGTACCTTCTCCAATAGTCTTGATCTG
AATAAACAGATGGTTGAATTTTTGCAGGCAGCCGGTTTGTCATTGGGTCACAATGATCCCGCAGATTTTGTCAGAAAGATAATTTTTAAAAACCCTTTTATCTTA
ATTCAGAGCACCAAGCGGGTGAAAGCTAACATTGAATTCTTACGGTCAACTTTCAATTTGAACAGTGAGGAACTGCTGGTTCTGATATGTGGTCCAGGAGCTGAA
ATCCTAGACCTTTCCAATGACTATGCCAGAAGAAGCTACGCAAACATCAAAGAGAAGCTGTTTTCTCTTGGATGTACTGAAGAAGAGGTACAGAAGTTTGTCTTA
AGCTATCCAGATGTGATCTTCTTGGCAGAGAAAAAGTTTAATGATAAAATAGACTGCCTCATGGAAGAAAACATTAGCATTTCACAAATAATCGAAAATCCTCGG
GTTCTGGATTCAAGCATAAGTACTTTAAAAAGTCGAATCAAAGAATTGGTAAATGCTGGCTGTAACTTGAGTACTTTAAACATCACTCTTCTATCTTGGAGTAAA
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>MTERF|7978|protein
MQSLSLGQTSISKGLNYLTIMAPGNLWHMRNNFLFGSRCWMTRFSAENIFKSVSFRLFGVKCHNTDSEPLKNEDLLKNLLTMGVDIDMARKRQPGVFHRMITNEQ
DLKMFLLSKGASKEVIASIISRYPRAITRTPENLSKRWDLWRKIVTSDLEIVNILERSPESFFRSNNNLNLENNIKFLYSVGLTRKCLCRLLTNAPRTFSNSLDL
NKQMVEFLQAAGLSLGHNDPADFVRKIIFKNPFILIQSTKRVKANIEFLRSTFNLNSEELLVLICGPGAEILDLSNDYARRSYANIKEKLFSLGCTEEEVQKFVL
SYPDVIFLAEKKFNDKIDCLMEENISISQIIENPRVLDSSISTLKSRIKELVNAGCNLSTLNITLLSWSKKRYEAKLKKLSRFA

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