Evidence Details for RNMT
Basic Information Top
Gene Symbol: | RNMT ( DKFZp686H1252,KIAA0398,MET,RG7MT1,hCMT1c ) |
---|---|
Gene Full Name: | RNA (guanine-7-) methyltransferase |
Band: | 18p11.21 |
Quick Links | Entrez ID:8731; OMIM: 603514; Uniprot ID:MCES_HUMAN; ENSEMBL ID: ENSG00000101654; HGNC ID: 10075 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>RNMT|8731|nucleotide
ATGGCAAATTCTGCAAAAGCAGAAGAATATGAAAAGATGTCTCTTGAACAGGCAAAAGCGTCAGTGAATTCTGAAACAGAGTCTTCATTCAATATTAATGAAAAC
ACAACAGCTTCTGGGACTGGGCTTTCTGAAAAGACTTCTGTCTGTAGGCAAGTAGACATAGCAAGAAAGAGAAAAGAGTTTGAAGATGATCTTGTAAAGGAAAGT
TCTAGTTGTGGGAAAGACACTCCATCCAAGAAGAGAAAACTTGATCCTGAAATTGTCCCAGAGGAAAAAGATTGTGGTGATGCTGAAGGCAATTCAAAGAAAAGA
AAAAGAGAAACTGAGGATGTTCCAAAAGATAAATCTTCTACTGGAGATGGCACTCAAAATAAGAGAAAAATAGCACTTGAGGATGTTCCTGAAAAGCAGAAAAAT
CTGGAAGAAGGACACAGCTCAACAGTGGCTGCCCATTACAATGAACTTCAGGAAGTTGGTTTGGAGAAGCGTAGTCAAAGTCGTATTTTTTACCTAAGAAACTTT
AATAATTGGATGAAAAGTGTTCTCATTGGAGAATTTTTGGAAAAGGTACGACAGAAGAAAAAACGTGATATCACTGTTTTGGACCTGGGATGTGGTAAAGGTGGA
GATTTGCTGAAATGGAAAAAAGGAAGAATTAACAAGCTAGTTTGTACTGATATTGCCGATGTTTCTGTCAAACAGTGTCAGCAGCGGTATGAGGACATGAAAAAT
CGTCGTGATAGTGAATATATTTTCAGTGCAGAATTTATAACTGCTGACAGCTCAAAGGAACTTCTGATTGACAAATTTCGTGACCCACAAATGTGTTTTGACATC
TGCAGTTGTCAGTTTGTCTGTCATTACTCATTTGAGTCTTATGAGCAGGCTGACATGATGCTGAGAAATGCGTGTGAGAGACTTAGCCCTGGGGGCTATTTTATT
GGTACTACTCCCAATAGCTTTGAATTGATAAGACGCCTTGAAGCTTCAGAAACAGAATCATTTGGAAATGAAATATATACTGTGAAATTTCAGAAGAAAGGAGAT
TATCCTTTATTTGGCTGCAAATATGACTTCAACTTGGAAGGTGTTGTGGATGTTCCTGAATTCTTGGTCTATTTTCCATTGCTAAATGAAATGGCAAAGAAGTAC
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ATGGCAAATTCTGCAAAAGCAGAAGAATATGAAAAGATGTCTCTTGAACAGGCAAAAGCGTCAGTGAATTCTGAAACAGAGTCTTCATTCAATATTAATGAAAAC
ACAACAGCTTCTGGGACTGGGCTTTCTGAAAAGACTTCTGTCTGTAGGCAAGTAGACATAGCAAGAAAGAGAAAAGAGTTTGAAGATGATCTTGTAAAGGAAAGT
TCTAGTTGTGGGAAAGACACTCCATCCAAGAAGAGAAAACTTGATCCTGAAATTGTCCCAGAGGAAAAAGATTGTGGTGATGCTGAAGGCAATTCAAAGAAAAGA
AAAAGAGAAACTGAGGATGTTCCAAAAGATAAATCTTCTACTGGAGATGGCACTCAAAATAAGAGAAAAATAGCACTTGAGGATGTTCCTGAAAAGCAGAAAAAT
CTGGAAGAAGGACACAGCTCAACAGTGGCTGCCCATTACAATGAACTTCAGGAAGTTGGTTTGGAGAAGCGTAGTCAAAGTCGTATTTTTTACCTAAGAAACTTT
AATAATTGGATGAAAAGTGTTCTCATTGGAGAATTTTTGGAAAAGGTACGACAGAAGAAAAAACGTGATATCACTGTTTTGGACCTGGGATGTGGTAAAGGTGGA
GATTTGCTGAAATGGAAAAAAGGAAGAATTAACAAGCTAGTTTGTACTGATATTGCCGATGTTTCTGTCAAACAGTGTCAGCAGCGGTATGAGGACATGAAAAAT
CGTCGTGATAGTGAATATATTTTCAGTGCAGAATTTATAACTGCTGACAGCTCAAAGGAACTTCTGATTGACAAATTTCGTGACCCACAAATGTGTTTTGACATC
TGCAGTTGTCAGTTTGTCTGTCATTACTCATTTGAGTCTTATGAGCAGGCTGACATGATGCTGAGAAATGCGTGTGAGAGACTTAGCCCTGGGGGCTATTTTATT
GGTACTACTCCCAATAGCTTTGAATTGATAAGACGCCTTGAAGCTTCAGAAACAGAATCATTTGGAAATGAAATATATACTGTGAAATTTCAGAAGAAAGGAGAT
TATCCTTTATTTGGCTGCAAATATGACTTCAACTTGGAAGGTGTTGTGGATGTTCCTGAATTCTTGGTCTATTTTCCATTGCTAAATGAAATGGCAAAGAAGTAC
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>RNMT|8731|protein
MANSAKAEEYEKMSLEQAKASVNSETESSFNINENTTASGTGLSEKTSVCRQVDIARKRKEFEDDLVKESSSCGKDTPSKKRKLDPEIVPEEKDCGDAEGNSKKR
KRETEDVPKDKSSTGDGTQNKRKIALEDVPEKQKNLEEGHSSTVAAHYNELQEVGLEKRSQSRIFYLRNFNNWMKSVLIGEFLEKVRQKKKRDITVLDLGCGKGG
DLLKWKKGRINKLVCTDIADVSVKQCQQRYEDMKNRRDSEYIFSAEFITADSSKELLIDKFRDPQMCFDICSCQFVCHYSFESYEQADMMLRNACERLSPGGYFI
GTTPNSFELIRRLEASETESFGNEIYTVKFQKKGDYPLFGCKYDFNLEGVVDVPEFLVYFPLLNEMAKKYNMKLVYKKTFLEFYEEKIKNNENKMLLKRMQALEP
YPANESSKLVSEKVDDYEHAAKYMKNSQVRLPLGTLSKSEWEATSIYLVFAFEKQQ
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MANSAKAEEYEKMSLEQAKASVNSETESSFNINENTTASGTGLSEKTSVCRQVDIARKRKEFEDDLVKESSSCGKDTPSKKRKLDPEIVPEEKDCGDAEGNSKKR
KRETEDVPKDKSSTGDGTQNKRKIALEDVPEKQKNLEEGHSSTVAAHYNELQEVGLEKRSQSRIFYLRNFNNWMKSVLIGEFLEKVRQKKKRDITVLDLGCGKGG
DLLKWKKGRINKLVCTDIADVSVKQCQQRYEDMKNRRDSEYIFSAEFITADSSKELLIDKFRDPQMCFDICSCQFVCHYSFESYEQADMMLRNACERLSPGGYFI
GTTPNSFELIRRLEASETESFGNEIYTVKFQKKGDYPLFGCKYDFNLEGVVDVPEFLVYFPLLNEMAKKYNMKLVYKKTFLEFYEEKIKNNENKMLLKRMQALEP
YPANESSKLVSEKVDDYEHAAKYMKNSQVRLPLGTLSKSEWEATSIYLVFAFEKQQ
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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 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (2) |
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 | ||||||
Gai, 2011 | AGRE | SNP microarray | - | - | autism | - | - | - | - | 1224 | 3801 | 5025 |
Linkage Studies Top
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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