AutismKB 2.0

Evidence Details for MPI


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Basic Information Top
Gene Symbol:MPI ( FLJ39201,PMI,PMI1 )
Gene Full Name: mannose phosphate isomerase
Band: 15q24.1
Quick LinksEntrez ID:4351; OMIM: 154550; Uniprot ID:MPI_HUMAN; ENSEMBL ID: ENSG00000178802; HGNC ID: 7216
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MPI|4351|nucleotide
ATGGCCGCTCCGCGAGTATTCCCACTTTCCTGTGCGGTGCAGCAGTATGCCTGGGGGAAGATGGGTTCCAACAGCGAAGTGGCGCGGCTGTTGGCCAGCAGTGAT
CCACTGGCCCAGATCGCAGAGGACAAGCCTTATGCAGAGTTGTGGATGGGGACTCACCCCCGAGGGGATGCCAAGATCCTTGACAACCGCATCTCACAGAAGACC
CTAAGCCAGTGGATTGCTGAGAACCAGGACAGCTTGGGCTCAAAGGTCAAGGACACCTTTAATGGCAACCTGCCCTTCCTCTTCAAAGTGCTCTCAGTTGAAACA
CCCCTGTCCATCCAGGCACACCCTAACAAGGAGCTGGCAGAGAAGCTGCACCTCCAGGCTCCGCAGCACTACCCCGATGCCAACCACAAGCCAGAGATGGCCATT
GCCCTCACCCCCTTCCAGGGCTTGTGTGGCTTCCGGCCAGTTGAGGAGATTGTAACCTTTCTAAAGAAGGTGCCTGAGTTTCAGTTCCTGATTGGAGATGAGGCA
GCAACACACCTGAAGCAGACCATGAGCCATGACTCCCAGGCTGTGGCCTCCTCTCTGCAGAGCTGTTTCTCCCACCTGATGAAGAGTGAGAAGAAGGTGGTGGTG
GAACAGCTCAACCTGTTGGTGAAGCGGATCTCCCAGCAAGCGGCTGCCGGAAACAACATGGAGGACATCTTTGGGGAGCTTTTGCTACAGCTGCACCAGCAGTAC
CCAGGTGATATCGGCTGCTTTGCCATCTACTTCCTGAACCTGCTTACCCTGAAGCCTGGGGAGGCCATGTTTCTGGAGGCCAACGTACCCCATGCCTACCTGAAA
GGAGACTGCGTGGAGTGCATGGCGTGTTCAGACAACACAGTTCGTGCTGGCCTGACACCCAAGTTCATTGATGTGCCAACCCTGTGTGAAATGCTCAGCTATACC
CCTAGCTCCAGCAAGGACAGGCTCTTTCTCCCAACACGGAGTCAGGAAGACCCCTACCTCTCAATCTATGACCCCCCTGTACCAGACTTCACCATTATGAAGACG
GAGGTCCCTGGCTCTGTCACTGAATACAAGGTCTTGGCACTGGACTCTGCCAGCATCCTCCTGATGGTACAGGGGACAGTAATAGCCAGCACACCCACAACCCAG
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>MPI|4351|protein
MAAPRVFPLSCAVQQYAWGKMGSNSEVARLLASSDPLAQIAEDKPYAELWMGTHPRGDAKILDNRISQKTLSQWIAENQDSLGSKVKDTFNGNLPFLFKVLSVET
PLSIQAHPNKELAEKLHLQAPQHYPDANHKPEMAIALTPFQGLCGFRPVEEIVTFLKKVPEFQFLIGDEAATHLKQTMSHDSQAVASSLQSCFSHLMKSEKKVVV
EQLNLLVKRISQQAAAGNNMEDIFGELLLQLHQQYPGDIGCFAIYFLNLLTLKPGEAMFLEANVPHAYLKGDCVECMACSDNTVRAGLTPKFIDVPTLCEMLSYT
PSSSKDRLFLPTRSQEDPYLSIYDPPVPDFTIMKTEVPGSVTEYKVLALDSASILLMVQGTVIASTPTTQTPIPLQRGGVLFIGANESVSLKLTEPKDLLIFRAC
CLL
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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 (3) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (4)
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
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top