AutismKB 2.0

Evidence Details for DYSF


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Basic Information Top
Gene Symbol:DYSF ( FER1L1,FLJ00175,FLJ90168,LGMD2B )
Gene Full Name: dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
Band: 2p13.2
Quick LinksEntrez ID:8291; OMIM: 603009; Uniprot ID:DYSF_HUMAN; ENSEMBL ID: ENSG00000135636; HGNC ID: 3097
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DYSF|8291|nucleotide
ATGCTGTGCTGCCTGCTGGTGAGGGCCAGCAACCTCCCCAGTGCGAAGAAGGACCGGCGCAGCGACCCTGTCGCAAGCCTGACTTTCCGAGGGGTGAAGAAGAGA
ACCAAAGTCATCAAGAACAGCGTGAACCCTGTATGGAATGAGGGATTTGAATGGGACCTCAAGGGCATCCCCCTGGACCAGGGCTCTGAGCTTCATGTGGTGGTC
AAAGACCATGAGACGATGGGGAGGAACAGGTTCCTGGGGGAAGCCAAGGTCCCACTCCGAGAGGTCCTCGCCACCCCTAGTCTGTCCGCCAGCTTCAATGCCCCC
CTGCTGGACACCAAGAAGCAGCCCACAGGGGCCTCGCTGGTCCTGCAGGTGTCCTACACACCGCTGCCTGGAGCTGTGCCCCTGTTCCCGCCCCCTACTCCTCTG
GAGCCCTCCCCGACTCTGCCTGACCTGGATGTAGTGGCAGACACAGGAGGAGAGGAAGACACAGAGGACCAGGGACTCACTGGAGATGAGGCGGAGCCATTCCTG
GATCAAAGCGGAGGCCCGGGGGCTCCCACCACCCCAAGGAAACTACCTTCACGTCCTCCGCCCCACTACCCCGGGATCAAAAGAAAGCGAAGTGCGCCTACATCT
AGAAAGCTGCTGTCAGACAAACCGCAGGATTTCCAGATCAGGGTCCAGGTGATCGAGGGGCGCCAGCTGCCGGGGGTGAACATCAAGCCTGTGGTCAAGGTTACC
GCTGCAGGGCAGACCAAGCGGACGCGGATCCACAAGGGAAACAGCCCACTCTTCAATGAGACTCTTTTCTTCAACTTGTTTGACTCTCCTGGGGAGCTGTTTGAT
GAGCCCATCTTTATCACGGTGGTAGACTCTCGTTCTCTCAGGACAGATGCTCTCCTCGGGGAGTTCCGGATGGACGTGGGCACCATTTACAGAGAGCCCCGGCAC
GCCTATCTCAGGAAGTGGCTGCTGCTCTCAGACCCTGATGACTTCTCTGCTGGGGCCAGAGGCTACCTGAAAACAAGCCTTTGTGTGCTGGGGCCTGGGGACGAA
GCGCCTCTGGAGAGAAAAGACCCCTCTGAAGACAAGGAGGACATTGAAAGCAACCTGCTCCGGCCCACAGGCGTAGCCCTGCGAGGAGCCCACTTCTGCCTGAAG
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>DYSF|8291|protein
MLCCLLVRASNLPSAKKDRRSDPVASLTFRGVKKRTKVIKNSVNPVWNEGFEWDLKGIPLDQGSELHVVVKDHETMGRNRFLGEAKVPLREVLATPSLSASFNAP
LLDTKKQPTGASLVLQVSYTPLPGAVPLFPPPTPLEPSPTLPDLDVVADTGGEEDTEDQGLTGDEAEPFLDQSGGPGAPTTPRKLPSRPPPHYPGIKRKRSAPTS
RKLLSDKPQDFQIRVQVIEGRQLPGVNIKPVVKVTAAGQTKRTRIHKGNSPLFNETLFFNLFDSPGELFDEPIFITVVDSRSLRTDALLGEFRMDVGTIYREPRH
AYLRKWLLLSDPDDFSAGARGYLKTSLCVLGPGDEAPLERKDPSEDKEDIESNLLRPTGVALRGAHFCLKVFRAEDLPQMDDAVMDNVKQIFGFESNKKNLVDPF
VEVSFAGKMLCSKILEKTANPQWNQNITLPAMFPSMCEKMRIRIIDWDRLTHNDIVATTYLSMSKISAPGGEIEEEPAGAVKPSKASDLDDYLGFLPTFGPCYIN
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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 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (2) 0 (0) 0 (0) 0 (0) 10 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)		 ADI-R ADOS Diagnosis Age
(range)		 IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery Illumina Infinium Human 1 M beadship 597 -
(-)		ASD -
-		 -
-
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)		 ADI-R ADOS Diagnosis Age
(range)		 IQ #Subjects
(% Women)		 Age
(range)
No Evidence.
CNV Studies Top
Linkage Studies Top