AutismKB 2.0

Evidence Details for FRMD6


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Basic Information Top
Gene Symbol:FRMD6 ( C14orf31,EX1,MGC17921,Willin,c14_5320 )
Gene Full Name: FERM domain containing 6
Band: 14q22.1
Quick LinksEntrez ID:122786; OMIM: NA; Uniprot ID:FRMD6_HUMAN; ENSEMBL ID: ENSG00000139926; HGNC ID: 19839
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FRMD6|122786|nucleotide
ATGAACAAATTGAATTTTCATAACAACAGAGTCATGCAAGACCGCCGCAGTGTGTGCATTTTCCTTCCCAACGATGAATCTCTGAACATCATCATAAATGTTAAG
ATTCTGTGTCACCAGTTGCTGGTCCAGGTTTGTGACCTGCTCAGGCTAAAGGACTGCCACCTCTTTGGACTCAGTGTTATACAAAATAATGAACATGTGTATATG
GAGTTGTCACAAAAGCTTTACAAATATTGTCCAAAAGAATGGAAGAAAGAGGCCAGCAAGGGTATCGACCAATTTGGGCCTCCTATGATCATCCACTTCCGTGTG
CAGTACTATGTGGAAAATGGCAGATTGATCAGTGACAGAGCAGCAAGATACTATTATTACTGGCACCTGAGAAAACAAGTTCTTCATTCTCAGTGTGTGCTCCGA
GAGGAGGCCTACTTCCTGCTGGCAGCCTTTGCCCTGCAGGCTGATCTTGGGAACTTCAAAAGGAATAAGCACTATGGAAAATACTTCGAGCCAGAGGCTTACTTC
CCATCTTGGGTTGTTTCCAAGAGGGGGAAGGACTACATCCTGAAGCACATTCCAAACATGCACAAAGATCAGTTTGCACTAACAGCTTCCGAAGCTCATCTTAAA
TATATCAAAGAGGCTGTCCGACTGGATGACGTCGCTGTTCATTACTACAGATTGTATAAGGATAAAAGGGAAATTGAAGCATCGCTGACTCTTGGATTGACCATG
AGGGGAATACAGATTTTTCAGAATTTAGATGAAGAGAAACAATTACTTTATGATTTCCCCTGGACAAATGTTGGAAAATTGGTGTTTGTGGGTAAGAAATTTGAG
ATTTTGCCAGATGGCTTGCCTTCTGCCCGGAAGCTCATATACTACACGGGGTGCCCCATGCGCTCCAGACACCTCCTGCAACTTCTGAGCAACAGCCACCGCCTC
TATATGAATCTGCAGCCTGTCCTGCGCCATATCCGGAAGCTGGAGGAAAACGAAGAGAAGAAGCAGTACCGGGAATCTTACATCAGTGACAACCTGGACCTCGAC
ATGGACCAGCTGGAAAAACGGTCGCGGGCCAGCGGGAGCAGTGCGGGCAGCATGAAACACAAGCGCCTGTCCCGTCATTCCACCGCCAGCCACAGCAGTTCCCAC
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>FRMD6|122786|protein
MNKLNFHNNRVMQDRRSVCIFLPNDESLNIIINVKILCHQLLVQVCDLLRLKDCHLFGLSVIQNNEHVYMELSQKLYKYCPKEWKKEASKGIDQFGPPMIIHFRV
QYYVENGRLISDRAARYYYYWHLRKQVLHSQCVLREEAYFLLAAFALQADLGNFKRNKHYGKYFEPEAYFPSWVVSKRGKDYILKHIPNMHKDQFALTASEAHLK
YIKEAVRLDDVAVHYYRLYKDKREIEASLTLGLTMRGIQIFQNLDEEKQLLYDFPWTNVGKLVFVGKKFEILPDGLPSARKLIYYTGCPMRSRHLLQLLSNSHRL
YMNLQPVLRHIRKLEENEEKKQYRESYISDNLDLDMDQLEKRSRASGSSAGSMKHKRLSRHSTASHSSSHTSGIEADTKPRDTGPEDSYSSSAIHRKLKTCSSMT
SHGSSHTSGVESGGKDRLEEDLQDDEIEMLVDDPRDLEQMNEESLEVSPDMCIYITEDMLMSRKLNGHSGLIVKEIGSSTSSSSETVVKLRGQSTDSLPQTICRK
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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) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top