AutismKB 2.0

Annotation Detail for EPB41L3


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:EPB41L3 ( 4.1B,DAL-1,DAL1,FLJ37633,KIAA0987 )
Gene Full Name: erythrocyte membrane protein band 4.1-like 3
Band: 18p11.31
Quick LinksEntrez ID:23136; OMIM: 605331; Uniprot ID:E41L3_HUMAN; ENSEMBL ID: ENSG00000082397; HGNC ID: 3380
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1N-acetylmethionine.
3Phosphothreonine.
5Phosphoserine.
7Phosphoserine.
9Phosphoserine.
11Phosphoserine.
88Phosphoserine (By similarity).
405N6-acetyllysine.
420Phosphoserine (By similarity).
443Phosphoserine (By similarity).
460Phosphoserine.
462Phosphothreonine (By similarity).
469Phosphothreonine.
703Phosphothreonine (By similarity).
704Phosphothreonine (By similarity).
708Phosphoserine (By similarity).
760Phosphoserine (By similarity).
762Phosphoserine.
784Phosphothreonine (By similarity).
787Phosphoserine (By similarity).
788Phosphoserine (By similarity).
962Phosphoserine.
1081Phosphothreonine (By similarity).
Location(AA) Modifications Resource
88Phosphoserine (By similarity).Swiss-Prot 53.0
443Phosphoserine (By similarity).Swiss-Prot 53.0
460Phosphoserine (By similarity).Swiss-Prot 53.0
462Phosphothreonine (By similarity).Swiss-Prot 53.0
469Phosphothreonine (By similarity).Swiss-Prot 53.0
703Phosphothreonine (By similarity).Swiss-Prot 53.0
704Phosphothreonine (By similarity).Swiss-Prot 53.0
708Phosphoserine (By similarity).Swiss-Prot 53.0
784Phosphothreonine (By similarity).Swiss-Prot 53.0
787Phosphoserine (By similarity).Swiss-Prot 53.0
788Phosphoserine (By similarity).Swiss-Prot 53.0
962Phosphoserine.Swiss-Prot 53.0
1081Phosphothreonine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
5Phosphoserine(IKK)HMM predict
7Phosphoserine(ATM)HMM predict
11Phosphoserine(CK2)HMM predict
11Phosphoserine(IKK)HMM predict
11Phosphoserine(CK1)HMM predict
56Phosphothreonine(CDC2)HMM predict
56Phosphothreonine(MAPK)HMM predict
56Phosphothreonine(CDK)HMM predict
88Phosphoserine(ATM)HMM predict
88Phosphoserine(CK1)HMM predict
92Phosphoserine(CDC2)HMM predict
93Phosphoserine(CK1)HMM predict
97Phosphoserine(PKG)HMM predict
99Phosphoserine(CDC2)HMM predict
122Phosphotyrosine(INSR)HMM predict
204Phosphotyrosine(Jak)HMM predict
240Phosphotyrosine(INSR)HMM predict
240SulfotyrosineHMM predict
247Phosphoserine(CK1)HMM predict
258N-linkedHMM predict
416Phosphothreonine(PKC)HMM predict
420Phosphoserine(PKG)HMM predict
435Phosphoserine(PKC)HMM predict
456O-linkedHMM predict
469Phosphothreonine(CDC2)HMM predict
469Phosphothreonine(CDK)HMM predict
469Phosphothreonine(MAPK)HMM predict
514Phosphoserine(CDC2)HMM predict
514Phosphoserine(MAPK)HMM predict
517O-linkedHMM predict
523O-linkedHMM predict
526Phosphothreonine(CDK)HMM predict
605Phosphotyrosine(Syk)HMM predict
605Phosphotyrosine(EGFR)HMM predict
605Phosphotyrosine(Jak)HMM predict
610N-linkedHMM predict
615N-linkedHMM predict
665S-palmitoylHMM predict
673Phosphoserine(IKK)HMM predict
683Phosphoserine(CK2)HMM predict
685Phosphoserine(CK1)HMM predict
686Phosphoserine(CK1)HMM predict
686Phosphoserine(IKK)HMM predict
690Phosphothreonine(CK2)HMM predict
708Phosphoserine(CK2)HMM predict
745O-linkedHMM predict
760Phosphoserine(PKG)HMM predict
762Phosphoserine(CDK)HMM predict
762Phosphoserine(CDC2)HMM predict
800Phosphoserine(CK1)HMM predict
821Phosphoserine(IKK)HMM predict
890O-linkedHMM predict
892O-linkedHMM predict
962Phosphoserine(CDC2)HMM predict
984O-linkedHMM predict
986O-linkedHMM predict
990Phosphoserine(ATM)HMM predict
1010O-linkedHMM predict
1011O-linkedHMM predict
1011O-linkedHMM predict
1013O-linkedHMM predict
1015Phosphoserine(IKK)HMM predict
1015Phosphoserine(CK1)HMM predict
1015O-linkedHMM predict
1016O-linkedHMM predict
1018O-linkedHMM predict
1078Phosphothreonine(PKA)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_012307
  • Location:chr18 5382387-5533985
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
hScc1 BcellGSE12603 5533895 5534273 378 99
hScc1 BcellGSE12603 5543507 5543946 439 9741
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 5414896 5415910 1014 0
CTCF G2GSE9613 5435284 5435637 353 0
CTCF G2GSE9613 5533567 5534166 599 0
ER Fulvestrant-MCF7GSE14664 5498225 5498260 35 0
ER MCF7GSE19013 5478664 5479319 655 0
Oct1 H2O2-HelaGSE14283 5428209 5428242 33 0
Oct1 HelaGSE14283 5384698 5384756 58 0
Oct1 HelaGSE14283 5452959 5453001 42 0
Oct1 HelaGSE14283 5498223 5498261 38 0
Oct1 HelaGSE14283 5509517 5509555 38 0
PHF8 293TGSE20725 5533432 5534317 885 0
Rb shRbQuiescentGSE19898 5517125 5517329 204 0
hScc1 BcellGSE12603 5532625 5533567 942 0
hScc1 G2GSE9613 5414896 5415651 755 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
11892 EST chr18 5453626 5470974 17348 mRNA EPB41L3 chr18 5382387 5533986 Non-exonic Bidirectional (NOB) 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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved