AutismKB 2.0

Annotation Detail for MEFV


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Basic Information Top
Gene Symbol:MEFV ( FMF,MEF,MGC126560,MGC126586,TRIM20 )
Gene Full Name: Mediterranean fever
Band: 16p13.3
Quick LinksEntrez ID:4210; OMIM: 608107; Uniprot ID:MEFV_HUMAN; ENSEMBL ID: ENSG00000103313; HGNC ID: 6998
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
437Nuclear localization signal (Potential).
Location(AA) Modifications Resource
Location(AA) Modification Resource
30N-linkedHMM predict
99N-linkedHMM predict
104Phosphoserine(IKK)HMM predict
145Phosphoserine(ATM)HMM predict
179Phosphoserine(CDK)HMM predict
179Phosphoserine(IKK)HMM predict
179Phosphoserine(CDC2)HMM predict
206N-linkedHMM predict
282Phosphothreonine(PKA)HMM predict
312O-linkedHMM predict
345O-linkedHMM predict
345O-linkedHMM predict
347O-linkedHMM predict
349Phosphoserine(CDC2)HMM predict
366Phosphoserine(IKK)HMM predict
366O-linkedHMM predict
368Phosphoserine(CDC2)HMM predict
436Phosphoserine(PKG)HMM predict
540Phosphothreonine(PKC)HMM predict
608Phosphotyrosine(EGFR)HMM predict
679N-linkedHMM predict
699Phosphotyrosine(EGFR)HMM predict
733N-linkedHMM predict
757Phosphoserine(CDC2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000243
  • Location:chr16 3232028-3246627
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 3254078 3254734 656 7779
CTCF G2GSE9613 3256751 3257191 440 10344
ETS1 JurkatGSE17954 3253543 3255060 1517 7674
Fos K562GSE19551 3253567 3255042 1475 7677
H3K4me3 colorectalcancer 3254774 3255167 393 8343
H3ac HepG2E 3254918 3255167 249 8415
H3ac HepG2E 3255529 3255839 310 9057
LIN9 G0GSE7516 3253684 3254629 945 7529
LIN9 SGSE7516 3253684 3254204 520 7317
RNAII Tamoxifen-MCF7GSE14664 3254800 3254836 36 8191
Rb SenescentGSE19898 3254169 3254592 423 7753
TAF HelaGSE8489 3259074 3259348 274 12584
TFAP2C MCF7GSE21234 3254480 3255119 639 8172
USF1 HepG2E 3254704 3255167 463 8308
hScc1 BcellGSE12603 3253684 3254704 1020 7567
hScc1 CdLSGSE12603 3254078 3254918 840 7871
p130 QuiescentGSE19898 3253659 3254087 428 7246
p130 QuiescentGSE19898 3254468 3254724 256 7969
p130 SenescentGSE19898 3253637 3254070 433 7226
p130 SenescentGSE19898 3254344 3255019 675 8054
p130 shRbQuiescentGSE19898 3253777 3254317 540 7420
p130 shRbSenescentGSE19898 3253676 3254624 948 7523
No data
No data
Validated miRNA targets Top
Cis-Nats regulation Top

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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