AutismKB 2.0

Evidence Details for MUM1L1


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Basic Information Top
Gene Symbol:MUM1L1 ( FLJ33516,MGC129994,MGC129995 )
Gene Full Name: melanoma associated antigen (mutated) 1-like 1
Band: Xq22.3
Quick LinksEntrez ID:139221; OMIM: NA; Uniprot ID:MUML1_HUMAN; ENSEMBL ID: ENSG00000157502; HGNC ID: 26583
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MUM1L1|139221|nucleotide
ATGGAGTCTGAGTATGTCCTATGCAACTGGAAAGACCAGTTGTGGCCAGCAAAAGTTTTGTCCAGATCTGAAACTTCATCAAACAGTAAGAGGAAAAAGGCATTT
TCTCTAGAAGTTCAAATACTCTCACTAGATGAAAAAATTAAATTGGACAGCACAGAAACAAAGATCCTAAATAAATCTCAAATTGAAGCCATTGCTGCCTCATTA
GGACTACAGTCAGAGGACAGTGCTCCACCTACAGAGGAAACTGCCTATGGAAGATCACTAAAAGTGGCACTGGGTATTCTGAATGAGAGAACAAATTTGAGTCAA
GCAAGCACTTCAGATGAAGAGGAGATCACTATGCTGTCTCAAAATGTACCACAAAAACAGTCCGATTCACCCCCTCATAAAAAATACCGGAAGGATGAAGGTGAC
TTACCAGGGTGTCTTGAGGAAAGGGAAAACTCAGCATGCTTGTTAGCATCTTCAGAGAGTGATGATTCCCTGTATGATGATAAATCACAAGCACCCACAATGGTC
GATACTATTCCAAGTGAAGTGGAAACAAAGTCATTACAAAACTCTAGCTGGTGCGAGACTTTCCCTTCACTTTCGGAAGATAATGATGAAAAAGAGAACAAGAAT
AAGATTGATATCTCAGCAGTTATGTCTGTGCATTCTGCAGTCAAAGAGGAAAGTGCATGTGTTAAAGATGAAAAGTTTGCTCCACCTTTGTCACCTTTGTCATCA
GATATGCTCATTATGCCCAAAGCTTTGAAAGAAGAGAGCGAGGATACCTGCCTAGAGACCCTGGCTGTTCCCTCTGAATGCTCTGCTTTCTCAGAGAATATTGAG
GATCCTGGAGAGGGTCCCTCAAATCCATGCTTAGATACCAGCCAGAATCAACCTTCCATGGAATCAGAGATGGGGGCTGCAGCATGCCCTGGGAGTTGTTCAAGG
GAATGCGAGGTTTCATTTAGTGCCTCTAACCCTGTCTGGGATTATTCACATCTTATGAGTAGTGAAAGAAATTTTCAGAGACTGGATTTTGAAGAACTTGAGGAA
GAAGGTCAAGCCTCTGACAAGTCATTGCTTCCAAGTCGCATTAATCTTTCTCTATTAGATGATGATGAGGAAGACGAAGAACTTCCACGCTTCATTTTACATTAT
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>MUM1L1|139221|protein
MESEYVLCNWKDQLWPAKVLSRSETSSNSKRKKAFSLEVQILSLDEKIKLDSTETKILNKSQIEAIAASLGLQSEDSAPPTEETAYGRSLKVALGILNERTNLSQ
ASTSDEEEITMLSQNVPQKQSDSPPHKKYRKDEGDLPGCLEERENSACLLASSESDDSLYDDKSQAPTMVDTIPSEVETKSLQNSSWCETFPSLSEDNDEKENKN
KIDISAVMSVHSAVKEESACVKDEKFAPPLSPLSSDMLIMPKALKEESEDTCLETLAVPSECSAFSENIEDPGEGPSNPCLDTSQNQPSMESEMGAAACPGSCSR
ECEVSFSASNPVWDYSHLMSSERNFQRLDFEELEEEGQASDKSLLPSRINLSLLDDDEEDEELPRFILHYETHPFETGMIVWFKYQKYPFWPAVIKSIRRKERKA
SVLFVEANMNSEKKGIRVNFRRLKKFDCKEKQMLVDKAREDYSESIDWCISLICDYRVRIGCGSFTGSLLEYYAADISYPVRKETKQDTFRNKFPKLHNEDAREP
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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 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top