AutismKB 2.0

Evidence Details for MFN1


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Basic Information Top
Gene Symbol:MFN1 ( DKFZp762F247,FLJ20693,MGC41806,hfzo1,hfzo2 )
Gene Full Name: mitofusin 1
Band: 3q26.33
Quick LinksEntrez ID:55669; OMIM: 608506; Uniprot ID:MFN1_HUMAN; ENSEMBL ID: ENSG00000171109; HGNC ID: 18262
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MFN1|55669|nucleotide
ATGGCAGAACCTGTTTCTCCACTGAAGCACTTTGTGCTGGCTAAGAAGGCGATTACTGCAATCTTTGACCAGTTACTGGAGTTTGTTACTGAAGGATCACATTTT
GTTGAAGCAACATATAAGAATCCGGAACTTGATCGAATAGCCACTGAAGATGATCTGGTAGAAATGCAAGGATATAAAGACAAGCTTTCCATCATTGGTGAGGTG
CTATCTCGGAGACACATGAAGGTGGCATTTTTTGGCAGGACAAGCAGTGGGAAGAGCTCTGTTATCAATGCAATGTTGTGGGATAAAGTTCTCCCTAGTGGGATT
GGCCATATAACCAATTGCTTCCTAAGTGTTGAAGGAACTGATGGAGATAAAGCCTATCTTATGACAGAAGGATCAGATGAAAAAAAGAGTGTGAAGACAGTTAAT
CAACTGGCCCATGCCCTTCACATGGACAAAGATTTGAAAGCTGGCTGTCTTGTACGTGTGTTTTGGCCAAAAGCAAAATGTGCCCTCTTGAGAGATGACCTGGTG
TTAGTAGACAGTCCAGGCACAGATGTCACTACAGAGCTGGATAGCTGGATTGATAAGTTTTGCCTAGATGCTGATGTCTTTGTTTTGGTCGCAAACTCTGAATCA
ACACTAATGAATACGGAAAAACACTTTTTTCACAAGGTGAATGAGCGGCTTTCCAAGCCTAATATTTTCATTCTCAATAATCGTTGGGATGCCTCTGCATCAGAG
CCAGAATATATGGAAGACGTACGCAGACAGCACATGGAAAGATGCCTGCATTTCTTGGTGGAGGAGCTCAAAGTTGTAAATGCTTTAGAAGCACAGAATCGTATC
TTCTTTGTTTCAGCAAAGGAAGTTCTTAGTGCTAGAAAGCAAAAAGCACAGGGGATGCCAGAAAGTGGTGTGGCACTTGCTGAAGGATTTCATGCAAGATTACAG
GAATTTCAGAATTTTGAACAAATCTTTGAGGAGTGTATCTCGCAGTCAGCAGTGAAAACAAAGTTCGAACAGCACACTATCAGAGCTAAACAGATACTAGCTACT
GTGAAAAACATAATGGATTCAGTAAACCTGGCAGCTGAAGATAAAAGGCATTATTCAGTGGAAGAGAGGGAAGACCAAATTGATAGACTGGACTTTATTCGAAAC
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>MFN1|55669|protein
MAEPVSPLKHFVLAKKAITAIFDQLLEFVTEGSHFVEATYKNPELDRIATEDDLVEMQGYKDKLSIIGEVLSRRHMKVAFFGRTSSGKSSVINAMLWDKVLPSGI
GHITNCFLSVEGTDGDKAYLMTEGSDEKKSVKTVNQLAHALHMDKDLKAGCLVRVFWPKAKCALLRDDLVLVDSPGTDVTTELDSWIDKFCLDADVFVLVANSES
TLMNTEKHFFHKVNERLSKPNIFILNNRWDASASEPEYMEDVRRQHMERCLHFLVEELKVVNALEAQNRIFFVSAKEVLSARKQKAQGMPESGVALAEGFHARLQ
EFQNFEQIFEECISQSAVKTKFEQHTIRAKQILATVKNIMDSVNLAAEDKRHYSVEEREDQIDRLDFIRNQMNLLTLDVKKKIKEVTEEVANKVSCAMTDEICRL
SVLVDEFCSEFHPNPDVLKIYKSELNKHIEDGMGRNLADRCTDEVNALVLQTQQEIIENLKPLLPAGIQDKLHTLIPCKKFDLSYNLNYHKLCSDFQEDIVFRFS
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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 (2) 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 3 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top