AutismKB 2.0

Annotation Detail for EPB41


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Basic Information Top
Gene Symbol:EPB41 ( 4.1R,EL1,HE )
Gene Full Name: erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)
Band: 1p35.3
Quick LinksEntrez ID:2035; OMIM: 130500; Uniprot ID:41_HUMAN; ENSEMBL ID: ENSG00000159023; HGNC ID: 3377
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
60Phosphothreonine; by CDK1.
92Phosphoserine.
188Phosphoserine.
191Phosphoserine.
222Phosphotyrosine (By similarity).
540Phosphoserine (By similarity).
542Phosphoserine.
555Phosphoserine.
660Phosphotyrosine; by EGFR.
674Phosphoserine (By similarity).
712Phosphoserine; by CDK1.
Location(AA) Modifications Resource
60Phosphothreonine (by CDC2).Swiss-Prot 53.0
540Phosphoserine (By similarity).Swiss-Prot 53.0
542Phosphoserine (By similarity).Swiss-Prot 53.0
555Phosphoserine (By similarity).Swiss-Prot 53.0
660Phosphotyrosine (by EGFR).Swiss-Prot 53.0
660Phosphotyrosine (EGFR)Phospho.ELM 6.0
712Phosphoserine (by CDC2).Swiss-Prot 53.0
759O-linkedOGlycBase6.0
759O-linkedOGlycBase6.0
Location(AA) Modification Resource
14Phosphoserine(CK1)HMM predict
60Phosphothreonine(MAPK)HMM predict
62Phosphothreonine(MAPK)HMM predict
74Phosphoserine(CK1)HMM predict
92Phosphoserine(IKK)HMM predict
95PhosphoserineHMM predict
149Phosphoserine(CK1)HMM predict
152Phosphoserine(CK1)HMM predict
191Phosphoserine(IKK)HMM predict
200Phosphoserine(ATM)HMM predict
222Phosphotyrosine(EGFR)HMM predict
258N-linkedHMM predict
261Phosphoserine(CK1)HMM predict
304Phosphotyrosine(Jak)HMM predict
340Phosphotyrosine(INSR)HMM predict
340SulfotyrosineHMM predict
358N-linkedHMM predict
459Phosphotyrosine(Syk)HMM predict
490O-linkedHMM predict
536Phosphoserine(CAMK2)HMM predict
536Phosphoserine(PKB)HMM predict
555Phosphoserine(CDK)HMM predict
555PhosphoserineHMM predict
559O-linkedHMM predict
559O-linkedHMM predict
559O-linkedHMM predict
565O-linkedHMM predict
582Phosphothreonine(PKC)HMM predict
591Phosphothreonine(PKC)HMM predict
660Phosphotyrosine(INSR)HMM predict
660Phosphotyrosine(EGFR)HMM predict
674PhosphoserineHMM predict
674Phosphoserine(CK2)HMM predict
674Phosphoserine(ATM)HMM predict
712Phosphoserine(CDC2)HMM predict
738O-linkedHMM predict
764O-linkedHMM predict
791O-linkedHMM predict
792O-linkedHMM predict
792O-linkedHMM predict
794Phosphothreonine(CDK)HMM predict
794O-linkedHMM predict
794Phosphothreonine(MAPK)HMM predict
796O-linkedHMM predict
796Phosphoserine(CK1)HMM predict
796O-linkedHMM predict
796Phosphoserine(IKK)HMM predict
797O-linkedHMM predict
797O-linkedHMM predict
797Phosphoserine(IKK)HMM predict
797O-linkedHMM predict
798O-linkedHMM predict
798O-linkedHMM predict
799O-linkedHMM predict
801O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_203343
  • Location:chr1 29086214-29319544
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 29076248 29076600 352 9791
CTCF CD4GSE12889 29081126 29081555 429 4874
CTCF CD4SISSRdata 29076248 29076600 352 9791
CTCF CD4SISSRdata 29081126 29081555 429 4874
CTCF JurkatGSE12889 29081118 29081530 412 4891
CTCF G2GSE9613 29076105 29076613 508 9856
CTCF G2GSE9613 29081052 29081637 585 4870
GABP k562GSE8489 29083615 29083880 265 2467
Gata1 K562GSE18868 29082682 29083378 696 3185
Gata1 K562GSE18868 29083602 29084946 1344 1941
Gata2 K562GSE18868 29082278 29084488 2210 2832
H3ac HepG2E 29082268 29082966 698 3598
H3ac HepG2E 29083615 29083910 295 2452
Myc K562GSE19551 29076205 29076637 432 9794
P300 T30-glioblastomaGSE21026 29083664 29084588 924 2089
TFAP2C MCF7GSE21234 29081117 29081462 345 4925
USF1 HepG2E 29085648 29086116 468 333
USF2 HepG2E 29083615 29083880 265 2467
USF2 HepG2E 29085648 29086116 468 333
hScc1 BcellGSE12603 29076105 29076720 615 9802
hScc1 BcellGSE12603 29077786 29078001 215 8321
hScc1 BcellGSE12603 29081052 29081743 691 4817
hScc1 CdLSGSE12603 29076105 29076720 615 9802
hScc1 CdLSGSE12603 29081052 29081769 717 4804
hScc1 G2GSE9613 29076105 29076686 581 9819
hScc1 G2GSE9613 29081052 29081637 585 4870
p63 keratinocytesGSE17611 29083575 29084673 1098 2091
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 29233060 29233278 218 0
CTCF CD4SISSRdata 29233060 29233278 218 0
CTCF G2GSE9613 29086223 29086802 579 0
CTCF G2GSE9613 29088334 29088679 345 0
CTCF G2GSE9613 29092757 29093041 284 0
CTCF G2GSE9613 29113494 29114333 839 0
ER Fulvestrant-MCF7GSE14664 29138580 29138616 36 0
ER Fulvestrant-MCF7GSE14664 29232583 29232620 37 0
ER MCF7GSE19013 29304933 29305478 545 0
Fos K562GSE19551 29113136 29113879 743 0
FoxA1 MCF7MACSdata 29305128 29305278 150 0
H3ac HepG2E 29088120 29088526 406 0
H3ac HepG2E 29112791 29113244 453 0
H3ac HepG2E 29114059 29115122 1063 0
Myc K562GSE19551 29125990 29126424 434 0
Myc hESGSE17917 29101111 29101537 426 0
Nanog hESGSE18292 29126868 29127352 484 0
Nanog hESGSE18292 29295589 29296112 523 0
Oct1 H2O2-HelaGSE14283 29133135 29133163 28 0
Oct1 H2O2-HelaGSE14283 29167647 29167682 35 0
Oct1 H2O2-HelaGSE14283 29190604 29190633 29 0
Oct1 H2O2-HelaGSE14283 29234590 29234629 39 0
Oct1 HelaGSE14283 29234589 29234624 35 0
Oct1 HelaGSE14283 29265616 29265646 30 0
TAF k562GSE8489 29114136 29115335 1199 0
TAF k562GSE8489 29181469 29181717 248 0
TFAP2C MCF7GSE21234 29164668 29164939 271 0
TFAP2C MCF7GSE21234 29304917 29305339 422 0
hScc1 BcellGSE12603 29086613 29087061 448 0
hScc1 BcellGSE12603 29088120 29088679 559 0
hScc1 BcellGSE12603 29092716 29093076 360 0
hScc1 BcellGSE12603 29113657 29114612 955 0
hScc1 BcellGSE12603 29232872 29233357 485 0
hScc1 CdLSGSE12603 29232761 29233430 669 0
p130 QuiescentGSE19898 29113221 29113446 225 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
490 mRNA EPB41 chr1 29034243 29267574 1014 mRNA TTMB chr1 29266560 29269320Sense/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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