AutismKB 2.0

Evidence Details for METAP2


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Basic Information Top
Gene Symbol:METAP2 ( MAP2,MNPEP,p67,p67eIF2 )
Gene Full Name: methionyl aminopeptidase 2
Band: 12q22
Quick LinksEntrez ID:10988; OMIM: 601870; Uniprot ID:AMPM2_HUMAN; ENSEMBL ID: ENSG00000111142; HGNC ID: 16672
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>METAP2|10988|nucleotide
ATGGCGGGTGTGGAGGAGGTAGCGGCCTCCGGGAGCCACCTGAATGGCGACCTGGATCCAGACGACAGGGAAGAAGGAGCTGCCTCTACGGCTGAGGAAGCAGCC
AAGAAAAAAAGACGAAAGAAGAAGAAGAGCAAAGGGCCTTCTGCAGCAGGGGAACAGGAACCTGATAAAGAATCAGGAGCCTCAGTGGATGAAGTAGCAAGACAG
TTGGAAAGATCAGCATTGGAAGATAAAGAAAGAGATGAAGATGATGAAGATGGAGATGGCGATGGAGATGGAGCAACTGGAAAGAAGAAGAAAAAGAAGAAGAAG
AAGAGAGGACCAAAAGTTCAAACAGACCCTCCCTCAGTTCCAATATGTGACCTGTATCCTAATGGTGTATTTCCCAAAGGACAAGAATGCGAATACCCACCCACA
CAAGATGGGCGAACAGCTGCTTGGAGAACTACAAGTGAAGAAAAGAAAGCATTAGATCAGGCAAGTGAAGAGATTTGGAATGATTTTCGAGAAGCTGCAGAAGCA
CATCGACAAGTTAGAAAATACGTAATGAGCTGGATCAAGCCTGGGATGACAATGATAGAAATCTGTGAAAAGTTGGAAGACTGTTCACGCAAGTTAATAAAAGAG
AATGGATTAAATGCAGGCCTGGCATTTCCTACTGGATGTTCTCTCAATAATTGTGCTGCCCATTATACTCCCAATGCCGGTGACACAACAGTATTACAGTATGAT
GACATCTGTAAAATAGACTTTGGAACACATATAAGTGGTAGGATTATTGACTGTGCTTTTACTGTCACTTTTAATCCCAAATATGATACGTTATTAAAAGCTGTA
AAAGATGCTACTAACACTGGAATAAAGTGTGCTGGAATTGATGTTCGTCTGTGTGATGTTGGTGAGGCCATCCAAGAAGTTATGGAGTCCTATGAAGTTGAAATA
GATGGGAAGACATATCAAGTGAAACCAATCCGTAATCTAAATGGACATTCAATTGGGCAATATAGAATACATGCTGGAAAAACAGTGCCGATTGTGAAAGGAGGG
GAGGCAACAAGAATGGAGGAAGGAGAAGTATATGCAATTGAAACCTTTGGTAGTACAGGAAAAGGTGTTGTTCATGATGATATGGAATGTTCACATTACATGAAA
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>METAP2|10988|protein
MAGVEEVAASGSHLNGDLDPDDREEGAASTAEEAAKKKRRKKKKSKGPSAAGEQEPDKESGASVDEVARQLERSALEDKERDEDDEDGDGDGDGATGKKKKKKKK
KRGPKVQTDPPSVPICDLYPNGVFPKGQECEYPPTQDGRTAAWRTTSEEKKALDQASEEIWNDFREAAEAHRQVRKYVMSWIKPGMTMIEICEKLEDCSRKLIKE
NGLNAGLAFPTGCSLNNCAAHYTPNAGDTTVLQYDDICKIDFGTHISGRIIDCAFTVTFNPKYDTLLKAVKDATNTGIKCAGIDVRLCDVGEAIQEVMESYEVEI
DGKTYQVKPIRNLNGHSIGQYRIHAGKTVPIVKGGEATRMEEGEVYAIETFGSTGKGVVHDDMECSHYMKNFDVGHVPIRLPRTKHLLNVINENFGTLAFCRRWL
DRLGESKYLMALKNLCDLGIVDPYPPLCDIKGSYTAQFEHTILLRPTCKEVVSRGDDY
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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 (2) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 4 (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
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Linkage Studies Top