AutismKB 2.0

Evidence Details for MFI2


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Basic Information Top
Gene Symbol:MFI2 ( CD228,FLJ38863,MAP97,MGC4856,MTF1 )
Gene Full Name: antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5
Band: 3q28-q29
Quick LinksEntrez ID:4241; OMIM: 155750; Uniprot ID:TRFM_HUMAN; ENSEMBL ID: ENSG00000163975; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MFI2|4241|nucleotide
ATGCGGGGTCCGAGCGGGGCTCTGTGGCTGCTCCTGGCTCTGCGCACCGTGCTCGGTGGCATGGAGGTGCGGTGGTGCGCCACCTCGGACCCAGAGCAGCACAAG
TGCGGCAACATGAGCGAGGCCTTCCGGGAAGCGGGCATCCAGCCCTCCCTCCTCTGCGTCCGGGGCACCTCCGCCGACCACTGCGTCCAGCTCATCGCGGCCCAG
GAGGCTGACGCCATCACTCTGGATGGAGGAGCCATCTATGAGGCGGGAAAGGAGCACGGCCTGAAGCCGGTGGTGGGCGAAGTGTACGATCAAGAGGTCGGTACC
TCCTATTACGCCGTGGCTGTGGTCAGGAGGAGCTCCCATGTGACCATTGACACCCTGAAAGGCGTGAAGTCCTGCCACACGGGCATCAATCGCACAGTGGGCTGG
AACGTGCCCGTGGGCTACCTGGTGGAGAGCGGCCGCCTCTCGGTGATGGGCTGCGATGTACTCAAAGCTGTCAGCGACTATTTTGGGGGCAGCTGCGTCCCGGGG
GCAGGAGAGACCAGTTACTCTGAGTCCCTCTGTCGCCTCTGCAGGGGTGACAGCTCTGGGGAAGGGGTGTGTGACAAGAGCCCCCTGGAGAGATACTACGACTAC
AGCGGGGCCTTCCGGTGCCTGGCGGAAGGGGCAGGGGACGTGGCTTTTGTGAAGCACAGCACGGTACTGGAGAACACGGATGGGAAGACGCTTCCCTCCTGGGGC
CAGGCCCTGCTGTCACAGGACTTCGAGCTGCTGTGCCGGGATGGTAGCCGGGCCGATGTCACCGAGTGGAGGCAGTGCCATCTGGCCCGGGTGCCTGCTCACGCC
GTGGTGGTCCGGGCCGACACAGATGGGGGCCTCATCTTCCGGCTGCTCAACGAAGGCCAGCGTCTGTTCAGCCACGAGGGCAGCAGCTTCCAGATGTTCAGCTCT
GAGGCCTATGGCCAGAAGGATCTACTCTTCAAAGACTCTACCTCGGAGCTTGTGCCCATCGCCACACAGACCTATGAGGCGTGGCTGGGCCATGAGTACCTGCAC
GCCATGAAGGGTCTGCTCTGTGACCCCAACCGGCTGCCCCCCTACCTGCGCTGGTGTGTGCTCTCCACTCCCGAGATCCAGAAGTGTGGAGACATGGCCGTGGCC
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>MFI2|4241|protein
MRGPSGALWLLLALRTVLGGMEVRWCATSDPEQHKCGNMSEAFREAGIQPSLLCVRGTSADHCVQLIAAQEADAITLDGGAIYEAGKEHGLKPVVGEVYDQEVGT
SYYAVAVVRRSSHVTIDTLKGVKSCHTGINRTVGWNVPVGYLVESGRLSVMGCDVLKAVSDYFGGSCVPGAGETSYSESLCRLCRGDSSGEGVCDKSPLERYYDY
SGAFRCLAEGAGDVAFVKHSTVLENTDGKTLPSWGQALLSQDFELLCRDGSRADVTEWRQCHLARVPAHAVVVRADTDGGLIFRLLNEGQRLFSHEGSSFQMFSS
EAYGQKDLLFKDSTSELVPIATQTYEAWLGHEYLHAMKGLLCDPNRLPPYLRWCVLSTPEIQKCGDMAVAFRRQRLKPEIQCVSAKSPQHCMERIQAEQVDAVTL
SGEDIYTAGKTYGLVPAAGEHYAPEDSSNSYYVVAVVRRDSSHAFTLDELRGKRSCHAGFGSPAGWDVPVGALIQRGFIRPKDCDVLTAVSEFFNASCVPVNNPK
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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) 1 (3) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 4 (5)
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
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Cox DM, 2015 - FISH--autism - - - - 1 - 1
Linkage Studies Top