AutismKB 2.0

Annotation Detail for EPB41L4A


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:EPB41L4A ( DKFZp566L203,EPB41L4,FLJ38738,NBL4 )
Gene Full Name: erythrocyte membrane protein band 4.1 like 4A
Band: 5q22.1-q22.2
Quick LinksEntrez ID:64097; OMIM: 612141; Uniprot ID:E41LA_HUMAN; ENSEMBL ID: ENSG00000129595; HGNC ID: 13278
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
402Phosphoserine.
Location(AA) Modifications Resource
402Phosphoserine.Swiss-Prot 53.0
402PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
12Phosphotyrosine(Syk)HMM predict
150SulfotyrosineHMM predict
150Phosphotyrosine(INSR)HMM predict
153Phosphotyrosine(Syk)HMM predict
159Phosphotyrosine(Jak)HMM predict
217N-linkedHMM predict
267N-linkedHMM predict
300N-linkedHMM predict
303N-linkedHMM predict
304Phosphoserine(CK1)HMM predict
310Phosphoserine(PKC)HMM predict
310Phosphoserine(PKG)HMM predict
310Phosphoserine(PKA)HMM predict
310Phosphoserine(CAMK2)HMM predict
343N-linkedHMM predict
351Phosphothreonine(PKC)HMM predict
389Phosphoserine(CDC2)HMM predict
414PhosphoserineHMM predict
425Phosphotyrosine(Abl)HMM predict
425Phosphotyrosine(INSR)HMM predict
427Phosphoserine(CDK)HMM predict
427Phosphoserine(CDC2)HMM predict
434Phosphoserine(CDC2)HMM predict
434Phosphoserine(CDK)HMM predict
444N-linkedHMM predict
451N-linkedHMM predict
479PhosphoserineHMM predict
479Phosphoserine(IKK)HMM predict
479Phosphoserine(PKA)HMM predict
482N-linkedHMM predict
487Phosphoserine(IKK)HMM predict
487Phosphoserine(CK2)HMM predict
492Phosphoserine(CK1)HMM predict
544Phosphoserine(CDC2)HMM predict
544Phosphoserine(IKK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_022140
  • Location:chr5 111526213-111782908
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 111783971 111784125 154 1140
CTCF CD4SISSRdata 111783971 111784125 154 1140
CTCF G2GSE9613 111782374 111784348 1974 453
ER E2-MCF7GSE14664 111792568 111792605 37 9678
NRSF JurkatSISSRdata 111783682 111783946 264 906
Oct1 HelaGSE14283 111783146 111783173 27 251
Oct1 HelaGSE14283 111798604 111798644 40 15716
hScc1 BcellGSE12603 111783762 111784267 505 1106
hScc1 CdLSGSE12603 111783729 111784291 562 1102
hScc1 G2GSE9613 111782571 111784453 1882 604
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T0-glioblastomaGSE21026 111772273 111772483 210 0
CTCF CD4GSE12889 111550051 111550296 245 0
CTCF CD4SISSRdata 111550051 111550296 245 0
CTCF G2GSE9613 111538516 111538896 380 0
CTCF G2GSE9613 111549992 111550363 371 0
CTCF G2GSE9613 111574005 111574549 544 0
CTCF G2GSE9613 111730422 111730779 357 0
ER E2-MCF7GSE14664 111659118 111659282 164 0
ER Fulvestrant-MCF7GSE14664 111659224 111659261 37 0
FOXA1 MCF7GSE15244 111779140 111779512 372 0
FOXA1 MCF7GSE15244 111781522 111782497 975 0
FoxA1 MCF7MACSdata 111531533 111531662 129 0
FoxA1 MCF7MACSdata 111696927 111697178 251 0
FoxA1 MCF7MACSdata 111779208 111779514 306 0
Gata2 K562GSE18868 111573933 111574618 685 0
H3K4me3 colorectalcancer 111781593 111782739 1146 0
Myc K562GSE19551 111529933 111530254 321 0
Myc K562GSE19551 111550084 111550359 275 0
Nanog ESGSE20650 111717433 111717953 520 0
Nanog hESGSE18292 111752405 111752640 235 0
Oct1 H2O2-HelaGSE14283 111551827 111551869 42 0
Oct1 H2O2-HelaGSE14283 111636037 111636065 28 0
Oct1 HelaGSE14283 111686570 111686610 40 0
Oct1 HelaGSE14283 111705421 111705455 34 0
Oct1 HelaGSE14283 111724136 111724164 28 0
Oct1 HelaGSE14283 111739174 111739251 77 0
Oct1 HelaGSE14283 111753488 111753531 43 0
Oct1 HelaGSE14283 111760691 111760729 38 0
RARA MCF7GSE15244 111591193 111592736 1543 0
TFAP2C MCF7GSE21234 111591348 111591962 614 0
TFAP2C MCF7GSE21234 111592262 111592649 387 0
TFAP2C MCF7GSE21234 111630058 111630322 264 0
TFAP2C MCF7GSE21234 111640592 111640979 387 0
hScc1 BcellGSE12603 111538516 111538929 413 0
hScc1 CdLSGSE12603 111538408 111538996 588 0
hScc1 G2GSE9613 111538370 111539037 667 0
hScc1 G2GSE9613 111573916 111574549 633 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
21326 EST chr5 111558192 111570659 150 mRNA EPB41L4A chr5 111528597 111782909Sense/Antisense (SA) pairs

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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