AutismKB 2.0

Annotation Detail 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
Post Translation Modification Top
Location(AA) Modification
437Phosphothreonine.
Location(AA) Modifications Resource
100PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
35Phosphothreonine(PKC)HMM predict
35Phosphothreonine(PKA)HMM predict
94O-linkedHMM predict
100Phosphoserine(IKK)HMM predict
113Phosphothreonine(PKA)HMM predict
144Phosphothreonine(PKC)HMM predict
160Phosphothreonine(CK2)HMM predict
166Phosphothreonine(CK2)HMM predict
184Phosphothreonine(PKC)HMM predict
185Phosphothreonine(MAPK)HMM predict
185Phosphothreonine(CDC2)HMM predict
185Phosphothreonine(CDK)HMM predict
191Phosphoserine(PKA)HMM predict
205Phosphoserine(IKK)HMM predict
205Phosphoserine(PKG)HMM predict
205Phosphoserine(PKA)HMM predict
208Phosphothreonine(PKC)HMM predict
249Phosphothreonine(PKC)HMM predict
252Phosphothreonine(PKA)HMM predict
263N-linkedHMM predict
269N-linkedHMM predict
273Phosphoserine(CDC2)HMM predict
309Phosphotyrosine(EGFR)HMM predict
336Phosphotyrosine(Jak)HMM predict
445N-linkedHMM predict
511SulfotyrosineHMM predict
637Phosphotyrosine(SRC)HMM predict
647SulfotyrosineHMM predict
707Phosphoserine(CK1)HMM predict
721Phosphoserine(ATM)HMM predict
730Phosphothreonine(MAPK)HMM predict
884N-linkedHMM predict
917Phosphoserine(PKA)HMM predict
956N-linkedHMM predict
971N-linkedHMM predict
976N-linkedHMM predict
1124Phosphoserine(IKK)HMM predict
1129Phosphoserine(IKK)HMM predict
1129Phosphoserine(CK1)HMM predict
1171Phosphoserine(IKK)HMM predict
1196N-linkedHMM predict
1234Phosphotyrosine(Syk)HMM predict
1234SulfotyrosineHMM predict
1243S-palmitoylHMM predict
1245S-palmitoylHMM predict
1319Phosphotyrosine(SRC)HMM predict
1319Phosphotyrosine(Syk)HMM predict
1319Phosphotyrosine(Abl)HMM predict
1319Phosphotyrosine(INSR)HMM predict
1351N-linkedHMM predict
1437Phosphoserine(CDC2)HMM predict
1437PhosphoserineHMM predict
1439Phosphoserine(CDC2)HMM predict
1448Phosphoserine(IKK)HMM predict
1451Phosphoserine(MAPK)HMM predict
1610MethyllysineHMM predict
1611Phosphoserine(PKG)HMM predict
1650SulfotyrosineHMM predict
1699Phosphoserine(ATM)HMM predict
1729Phosphoserine(CK2)HMM predict
1729Phosphoserine(CK1)HMM predict
1771Phosphotyrosine(INSR)HMM predict
1802N-linkedHMM predict
1829Phosphoserine(CK1)HMM predict
1854Phosphothreonine(PKC)HMM predict
1995Phosphoserine(CK2)HMM predict
2030Phosphoserine(CDC2)HMM predict
2034Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_003494
  • Location:chr2 71534267-71767399
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K27me3 colorectalcancer 71531640 71532596 956 2150
TFAP2C MCF7GSE21234 71525426 71525894 468 8608
TFAP2C MCF7GSE21234 71533056 71533572 516 954
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 71774167 71774543 376 6956
CTCF G2GSE9613 71781431 71781942 511 14287
CTCF G2GSE9613 71782753 71782937 184 15446
CTCF G2GSE9613 71784898 71785155 257 17627
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 71672812 71673366 554 0
CTCF CD4GSE12889 71590855 71591247 392 0
CTCF CD4GSE12889 71611441 71611640 199 0
CTCF CD4GSE12889 71629307 71629650 343 0
CTCF CD4SISSRdata 71590855 71591247 392 0
CTCF CD4SISSRdata 71611441 71611640 199 0
CTCF CD4SISSRdata 71629307 71629650 343 0
CTCF HelaGSE12889 71590941 71591138 197 0
CTCF HelaGSE12889 71629299 71629617 318 0
CTCF G2GSE9613 71536977 71537232 255 0
CTCF G2GSE9613 71541389 71542275 886 0
CTCF G2GSE9613 71546707 71547746 1039 0
CTCF G2GSE9613 71562698 71563157 459 0
CTCF G2GSE9613 71564077 71564294 217 0
CTCF G2GSE9613 71583745 71584113 368 0
CTCF G2GSE9613 71585737 71586108 371 0
CTCF G2GSE9613 71590985 71591342 357 0
CTCF G2GSE9613 71591615 71591982 367 0
CTCF G2GSE9613 71592399 71593312 913 0
CTCF G2GSE9613 71611219 71611692 473 0
CTCF G2GSE9613 71616306 71616456 150 0
CTCF G2GSE9613 71626228 71626764 536 0
CTCF G2GSE9613 71628334 71629853 1519 0
CTCF G2GSE9613 71633801 71634543 742 0
CTCF G2GSE9613 71635547 71636229 682 0
CTCF G2GSE9613 71637758 71638280 522 0
CTCF G2GSE9613 71638772 71639267 495 0
CTCF G2GSE9613 71639556 71640362 806 0
CTCF G2GSE9613 71640644 71641261 617 0
CTCF G2GSE9613 71648791 71649109 318 0
CTCF G2GSE9613 71651302 71651623 321 0
CTCF G2GSE9613 71655109 71656038 929 0
CTCF G2GSE9613 71656599 71657556 957 0
CTCF G2GSE9613 71660731 71661045 314 0
CTCF G2GSE9613 71664596 71665131 535 0
CTCF G2GSE9613 71667085 71667928 843 0
CTCF G2GSE9613 71669218 71669660 442 0
CTCF G2GSE9613 71672718 71672976 258 0
CTCF G2GSE9613 71675964 71676306 342 0
CTCF G2GSE9613 71677594 71679272 1678 0
CTCF G2GSE9613 71680123 71680561 438 0
CTCF G2GSE9613 71681479 71681609 130 0
CTCF G2GSE9613 71683327 71683481 154 0
CTCF G2GSE9613 71684085 71685068 983 0
CTCF G2GSE9613 71688906 71689261 355 0
CTCF G2GSE9613 71689549 71689935 386 0
CTCF G2GSE9613 71691335 71691727 392 0
CTCF G2GSE9613 71717792 71718186 394 0
CTCF G2GSE9613 71726821 71727212 391 0
CTCF G2GSE9613 71742570 71743025 455 0
CTCF G2GSE9613 71744573 71745329 756 0
CTCF G2GSE9613 71745883 71746176 293 0
CTCF G2GSE9613 71749059 71749256 197 0
CTCF G2GSE9613 71752569 71753875 1306 0
CTCF G2GSE9613 71765757 71766185 428 0
ER MCF7GSE19013 71671324 71671834 510 0
Gata1 K562GSE18868 71686807 71687386 579 0
Gata2 K562GSE18868 71686776 71687275 499 0
KLF4 hESGSE17917 71698851 71699302 451 0
Nanog hESGSE18292 71608487 71608763 276 0
Oct1 H2O2-HelaGSE14283 71549779 71549809 30 0
Oct1 H2O2-HelaGSE14283 71631163 71631191 28 0
Oct1 H2O2-HelaGSE14283 71631592 71631626 34 0
Oct1 HelaGSE14283 71549779 71549809 30 0
Oct1 HelaGSE14283 71630392 71630453 61 0
Oct1 HelaGSE14283 71631156 71631196 40 0
Oct1 HelaGSE14283 71631592 71631629 37 0
Oct4 hESGSE21916 71577122 71577554 432 0
P300 T0-glioblastomaGSE21026 71672744 71673429 685 0
P300 T30-glioblastomaGSE21026 71578710 71579658 948 0
P300 T30-glioblastomaGSE21026 71672765 71673607 842 0
Rb shRbSenescenceGSE19898 71612306 71612524 218 0
Rb shRbSenescenceGSE19898 71750469 71750673 204 0
Sox2 hESGSE18292 71577269 71577456 187 0
TAF k562GSE8489 71545218 71545767 549 0
TFAP2C MCF7GSE21234 71629254 71629730 476 0
TFAP2C MCF7GSE21234 71724517 71725129 612 0
hScc1 BcellGSE12603 71547516 71547706 190 0
hScc1 BcellGSE12603 71590985 71591307 322 0
hScc1 BcellGSE12603 71611255 71611628 373 0
hScc1 BcellGSE12603 71626264 71626827 563 0
hScc1 BcellGSE12603 71629140 71629790 650 0
hScc1 BcellGSE12603 71648562 71648934 372 0
hScc1 BcellGSE12603 71651440 71651623 183 0
hScc1 BcellGSE12603 71664449 71664703 254 0
hScc1 BcellGSE12603 71689774 71690016 242 0
hScc1 CdLSGSE12603 71590985 71591418 433 0
hScc1 CdLSGSE12603 71626156 71626764 608 0
hScc1 CdLSGSE12603 71629113 71629853 740 0
hScc1 G2GSE9613 71590985 71591776 791 0
hScc1 G2GSE9613 71611146 71611692 546 0
hScc1 G2GSE9613 71626156 71626827 671 0
hScc1 G2GSE9613 71628517 71629999 1482 0
hScc1 G2GSE9613 71752491 71753664 1173 0
p63 keratinocytesGSE17611 71616716 71617688 972 0
Validated miRNA targets Top
Cis-Nats regulation Top

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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