AutismKB 2.0

Evidence Details for MIPEP


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Basic Information Top
Gene Symbol:MIPEP ( HMIP,MIP )
Gene Full Name: mitochondrial intermediate peptidase
Band: 13q12.12
Quick LinksEntrez ID:4285; OMIM: 602241; Uniprot ID:MIPEP_HUMAN; ENSEMBL ID: ENSG00000027001; HGNC ID: 7104
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MIPEP|4285|nucleotide
ATGCTGTGCGTCGGAAGGCTGGGCGGCTTGGGAGCCAGAGCAGCAGCTCTGCCGCCCCGCCGGGCGGGCCGGGGAAGCCTCGAAGCCGGGATCCGGGCCCGAAGG
GTCAGCACCAGCTGGTCTCCCGTGGGCGCCGCCTTCAATGTCAAGCCCCAGGGCAGCCGCTTGGACCTGTTCGGCGAGCGCCGGGGTCTTTTTGGAGTTCCTGAG
CTGAGTGCCCCAGAAGGATTTCATATTGCACAAGAAAAAGCCTTGAGAAAGACAGAATTGCTTGTGGACCGTGCATGTTCCACCCCACCTGGGCCCCAGACCGTG
CTGATCTTCGATGAGCTCTCGGATTCCTTATGCAGAGTGGCCGACTTGGCTGATTTTGTGAAAATCGCTCACCCTGAGCCAGCATTCAGAGAAGCTGCGGAAGAA
GCTTGTAGAAGTATTGGCACCATGGTAGAGAAGTTGAACACAAATGTGGATTTATATCAAAGTTTGCAAAAATTACTAGCTGATAAAAAACTTGTGGATTCCCTT
GATCCAGAAACAAGGCGAGTGGCTGAACTGTTTATGTTTGATTTTGAAATTAGTGGAATCCATCTAGACAAAGAAAAGCGTAAAAGAGCAGTGGACCTCAATGTT
AAAATCTTGGATTTGAGTAGTACATTTCTTATGGGAACCAATTTTCCCAACAAGATTGAGAAGCATCTCTTACCAGAACACATTCGTCGTAACTTTACATCTGCT
GGGGATCATATCATAATTGATGGTCTCCACGCAGAATCACCAGATGACTTGGTGCGAGAAGCTGCTTATAAAATTTTTCTTTATCCCAATGCTGGTCAATTGAAA
TGTTTAGAAGAATTGCTCAGCAGCAGAGATCTTCTGGCAAAGTTGGTGGGGTATTCCACGTTTTCTCACAGGGCTCTCCAAGGAACGATAGCTAAAAATCCAGAG
ACTGTCATGCAGTTCCTTGAAAAACTATCTGACAAACTTTCTGAAAGAACTCTGAAAGATTTTGAGATGATACGAGGGATGAAAATGAAACTGAATCCTCAAAAT
TCCGAAGTAATGCCCTGGGACCCCCCTTACTACAGTGGTGTGATTCGTGCAGAAAGGTATAATATTGAGCCCAGCCTATATTGCCCGTTTTTCTCTCTTGGAGCA
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>MIPEP|4285|protein
MLCVGRLGGLGARAAALPPRRAGRGSLEAGIRARRVSTSWSPVGAAFNVKPQGSRLDLFGERRGLFGVPELSAPEGFHIAQEKALRKTELLVDRACSTPPGPQTV
LIFDELSDSLCRVADLADFVKIAHPEPAFREAAEEACRSIGTMVEKLNTNVDLYQSLQKLLADKKLVDSLDPETRRVAELFMFDFEISGIHLDKEKRKRAVDLNV
KILDLSSTFLMGTNFPNKIEKHLLPEHIRRNFTSAGDHIIIDGLHAESPDDLVREAAYKIFLYPNAGQLKCLEELLSSRDLLAKLVGYSTFSHRALQGTIAKNPE
TVMQFLEKLSDKLSERTLKDFEMIRGMKMKLNPQNSEVMPWDPPYYSGVIRAERYNIEPSLYCPFFSLGACMEGLNILLNRLLGISLYAEQPAKGEVWSEDVRKL
AVVHESEGLLGYIYCDFFQRADKPHQDCHFTIRGGRLKEDGDYQLPVVVLMLNLPRSSRSSPTLLTPGMMENLFHEMGHAMHSMLGRTRYQHVTGTRCPTDFAEV
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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 (1) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top