Evidence Details for DYSF
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 Links | Entrez 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
Show »
ATGCTGTGCTGCCTGCTGGTGAGGGCCAGCAACCTCCCCAGTGCGAAGAAGGACCGGCGCAGCGACCCTGTCGCAAGCCTGACTTTCCGAGGGGTGAAGAAGAGA
ACCAAAGTCATCAAGAACAGCGTGAACCCTGTATGGAATGAGGGATTTGAATGGGACCTCAAGGGCATCCCCCTGGACCAGGGCTCTGAGCTTCATGTGGTGGTC
AAAGACCATGAGACGATGGGGAGGAACAGGTTCCTGGGGGAAGCCAAGGTCCCACTCCGAGAGGTCCTCGCCACCCCTAGTCTGTCCGCCAGCTTCAATGCCCCC
CTGCTGGACACCAAGAAGCAGCCCACAGGGGCCTCGCTGGTCCTGCAGGTGTCCTACACACCGCTGCCTGGAGCTGTGCCCCTGTTCCCGCCCCCTACTCCTCTG
GAGCCCTCCCCGACTCTGCCTGACCTGGATGTAGTGGCAGACACAGGAGGAGAGGAAGACACAGAGGACCAGGGACTCACTGGAGATGAGGCGGAGCCATTCCTG
GATCAAAGCGGAGGCCCGGGGGCTCCCACCACCCCAAGGAAACTACCTTCACGTCCTCCGCCCCACTACCCCGGGATCAAAAGAAAGCGAAGTGCGCCTACATCT
AGAAAGCTGCTGTCAGACAAACCGCAGGATTTCCAGATCAGGGTCCAGGTGATCGAGGGGCGCCAGCTGCCGGGGGTGAACATCAAGCCTGTGGTCAAGGTTACC
GCTGCAGGGCAGACCAAGCGGACGCGGATCCACAAGGGAAACAGCCCACTCTTCAATGAGACTCTTTTCTTCAACTTGTTTGACTCTCCTGGGGAGCTGTTTGAT
GAGCCCATCTTTATCACGGTGGTAGACTCTCGTTCTCTCAGGACAGATGCTCTCCTCGGGGAGTTCCGGATGGACGTGGGCACCATTTACAGAGAGCCCCGGCAC
GCCTATCTCAGGAAGTGGCTGCTGCTCTCAGACCCTGATGACTTCTCTGCTGGGGCCAGAGGCTACCTGAAAACAAGCCTTTGTGTGCTGGGGCCTGGGGACGAA
GCGCCTCTGGAGAGAAAAGACCCCTCTGAAGACAAGGAGGACATTGAAAGCAACCTGCTCCGGCCCACAGGCGTAGCCCTGCGAGGAGCCCACTTCTGCCTGAAG
Show »
>DYSF|8291|protein
MLCCLLVRASNLPSAKKDRRSDPVASLTFRGVKKRTKVIKNSVNPVWNEGFEWDLKGIPLDQGSELHVVVKDHETMGRNRFLGEAKVPLREVLATPSLSASFNAP
LLDTKKQPTGASLVLQVSYTPLPGAVPLFPPPTPLEPSPTLPDLDVVADTGGEEDTEDQGLTGDEAEPFLDQSGGPGAPTTPRKLPSRPPPHYPGIKRKRSAPTS
RKLLSDKPQDFQIRVQVIEGRQLPGVNIKPVVKVTAAGQTKRTRIHKGNSPLFNETLFFNLFDSPGELFDEPIFITVVDSRSLRTDALLGEFRMDVGTIYREPRH
AYLRKWLLLSDPDDFSAGARGYLKTSLCVLGPGDEAPLERKDPSEDKEDIESNLLRPTGVALRGAHFCLKVFRAEDLPQMDDAVMDNVKQIFGFESNKKNLVDPF
VEVSFAGKMLCSKILEKTANPQWNQNITLPAMFPSMCEKMRIRIIDWDRLTHNDIVATTYLSMSKISAPGGEIEEEPAGAVKPSKASDLDDYLGFLPTFGPCYIN
Show »
MLCCLLVRASNLPSAKKDRRSDPVASLTFRGVKKRTKVIKNSVNPVWNEGFEWDLKGIPLDQGSELHVVVKDHETMGRNRFLGEAKVPLREVLATPSLSASFNAP
LLDTKKQPTGASLVLQVSYTPLPGAVPLFPPPTPLEPSPTLPDLDVVADTGGEEDTEDQGLTGDEAEPFLDQSGGPGAPTTPRKLPSRPPPHYPGIKRKRSAPTS
RKLLSDKPQDFQIRVQVIEGRQLPGVNIKPVVKVTAAGQTKRTRIHKGNSPLFNETLFFNLFDSPGELFDEPIFITVVDSRSLRTDALLGEFRMDVGTIYREPRH
AYLRKWLLLSDPDDFSAGARGYLKTSLCVLGPGDEAPLERKDPSEDKEDIESNLLRPTGVALRGAHFCLKVFRAEDLPQMDDAVMDNVKQIFGFESNKKNLVDPF
VEVSFAGKMLCSKILEKTANPQWNQNITLPAMFPSMCEKMRIRIIDWDRLTHNDIVATTYLSMSKISAPGGEIEEEPAGAVKPSKASDLDDYLGFLPTFGPCYIN
Show »
Evidence summary TopClick 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 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 10 (3) |
Syndromic Autism Gene TopGenome-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 TopLinkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS 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 TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.