Evidence Details for METAP2
Basic Information Top
Gene Symbol: | METAP2 ( MAP2,MNPEP,p67,p67eIF2 ) |
---|---|
Gene Full Name: | methionyl aminopeptidase 2 |
Band: | 12q22 |
Quick Links | Entrez 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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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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MAGVEEVAASGSHLNGDLDPDDREEGAASTAEEAAKKKRRKKKKSKGPSAAGEQEPDKESGASVDEVARQLERSALEDKERDEDDEDGDGDGDGATGKKKKKKKK
KRGPKVQTDPPSVPICDLYPNGVFPKGQECEYPPTQDGRTAAWRTTSEEKKALDQASEEIWNDFREAAEAHRQVRKYVMSWIKPGMTMIEICEKLEDCSRKLIKE
NGLNAGLAFPTGCSLNNCAAHYTPNAGDTTVLQYDDICKIDFGTHISGRIIDCAFTVTFNPKYDTLLKAVKDATNTGIKCAGIDVRLCDVGEAIQEVMESYEVEI
DGKTYQVKPIRNLNGHSIGQYRIHAGKTVPIVKGGEATRMEEGEVYAIETFGSTGKGVVHDDMECSHYMKNFDVGHVPIRLPRTKHLLNVINENFGTLAFCRRWL
DRLGESKYLMALKNLCDLGIVDPYPPLCDIKGSYTAQFEHTILLRPTCKEVVSRGDDY
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Evidence summary Top
Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 microarray | ASD | 1491 | - | - | - | - | - | 0 | ||
Bucan, 2009 | USA | SNP microarray | autism, ASD | 912 | - | 912 | - | - | 1488 | 1488 |
Linkage Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Ma, 2007 | USA | SNP-based genomic screen | autism | 26 | - | 26 | - | - | - | - |
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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