AutismKB 2.0

Annotation Detail for EPB41L1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:EPB41L1 ( 4.1N,DKFZp686H17242,KIAA0338,MGC11072 )
Gene Full Name: erythrocyte membrane protein band 4.1-like 1
Band: 20q11.23
Quick LinksEntrez ID:2036; OMIM: 602879; Uniprot ID:E41L1_HUMAN; ENSEMBL ID: ENSG00000088367; HGNC ID: 3378
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
75Phosphoserine.
79Phosphothreonine.
343Phosphotyrosine (By similarity).
378Phosphoserine.
430Phosphoserine (By similarity).
437Phosphoserine.
441Phosphoserine.
466Phosphoserine (By similarity).
475Phosphothreonine.
510Phosphoserine (By similarity).
540Phosphoserine.
541Phosphoserine.
544Phosphoserine.
546Phosphoserine.
550Phosphothreonine (By similarity).
564Phosphoserine.
578Phosphoserine.
639Phosphoserine (By similarity).
648Phosphoserine.
650Phosphoserine.
678Phosphoserine (By similarity).
686Phosphothreonine (By similarity).
722Phosphoserine (By similarity).
727Phosphothreonine (By similarity).
784Phosphoserine.
867Phosphothreonine (By similarity).
870Phosphoserine (By similarity).
881Phosphoserine (By similarity).
Location(AA) Modifications Resource
378Phosphoserine.Swiss-Prot 53.0
430PhosphoserinePhospho.ELM 6.0
437PhosphoserinePhospho.ELM 6.0
437Phosphoserine.Swiss-Prot 53.0
441PhosphoserinePhospho.ELM 6.0
441Phosphoserine.Swiss-Prot 53.0
443PhosphoserinePhospho.ELM 6.0
466Phosphoserine (By similarity).Swiss-Prot 53.0
475Phosphothreonine (By similarity).Swiss-Prot 53.0
510Phosphoserine (By similarity).Swiss-Prot 53.0
540Phosphoserine (By similarity).Swiss-Prot 53.0
544PhosphoserinePhospho.ELM 6.0
544Phosphoserine (By similarity).Swiss-Prot 53.0
546Phosphoserine.Swiss-Prot 53.0
546PhosphoserinePhospho.ELM 6.0
550Phosphothreonine (By similarity).Swiss-Prot 53.0
564PhosphoserinePhospho.ELM 6.0
564Phosphoserine.Swiss-Prot 53.0
648PhosphoserinePhospho.ELM 6.0
648Phosphoserine (By similarity).Swiss-Prot 53.0
650PhosphoserinePhospho.ELM 6.0
650Phosphoserine (By similarity).Swiss-Prot 53.0
678Phosphoserine (By similarity).Swiss-Prot 53.0
686Phosphothreonine (By similarity).Swiss-Prot 53.0
722Phosphoserine (By similarity).Swiss-Prot 53.0
727Phosphothreonine (By similarity).Swiss-Prot 53.0
784Phosphoserine.Swiss-Prot 53.0
Location(AA) Modification Resource
29O-linkedHMM predict
30Phosphothreonine(CDK)HMM predict
30O-linkedHMM predict
33Phosphothreonine(MAPK)HMM predict
50Phosphoserine(ATM)HMM predict
68Phosphotyrosine(SRC)HMM predict
68Phosphotyrosine(Syk)HMM predict
68Phosphotyrosine(INSR)HMM predict
69Phosphoserine(CK2)HMM predict
109Phosphotyrosine(INSR)HMM predict
191Phosphotyrosine(Jak)HMM predict
227Phosphotyrosine(INSR)HMM predict
227SulfotyrosineHMM predict
245N-linkedHMM predict
343Phosphotyrosine(EGFR)HMM predict
343Phosphotyrosine(SRC)HMM predict
378Phosphoserine(CDC2)HMM predict
422Phosphoserine(PKC)HMM predict
441Phosphoserine(IKK)HMM predict
466Phosphoserine(CK2)HMM predict
489Phosphothreonine(MAPK)HMM predict
517Phosphothreonine(PKC)HMM predict
540Phosphoserine(PKB)HMM predict
541O-linkedHMM predict
541Phosphoserine(MAPK)HMM predict
541O-linkedHMM predict
541Phosphoserine(ATM)HMM predict
541Phosphoserine(IKK)HMM predict
541Phosphoserine(CDK)HMM predict
541Phosphoserine(CDC2)HMM predict
544Phosphoserine(ATM)HMM predict
544Phosphoserine(MAPK)HMM predict
544Phosphoserine(CDC2)HMM predict
546O-linkedHMM predict
546Phosphoserine(CDC2)HMM predict
546Phosphoserine(IKK)HMM predict
550Phosphothreonine(CDC2)HMM predict
550Phosphothreonine(CDK)HMM predict
580Phosphothreonine(CK2)HMM predict
606Phosphoserine(PKG)HMM predict
614Phosphoserine(CK1)HMM predict
615Phosphoserine(CK1)HMM predict
648Phosphoserine(CK2)HMM predict
650Phosphoserine(CK1)HMM predict
650Phosphoserine(CK2)HMM predict
667Phosphoserine(ATM)HMM predict
667Phosphoserine(CK2)HMM predict
746O-linkedHMM predict
748O-linkedHMM predict
751O-linkedHMM predict
754O-linkedHMM predict
799O-linkedHMM predict
802O-linkedHMM predict
804Phosphoserine(CK1)HMM predict
804O-linkedHMM predict
805O-linkedHMM predict
806O-linkedHMM predict
806O-linkedHMM predict
807O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_012156
  • Location:chr20 34206075-34284133
  • strand:+
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
GABP k562GSE8489 34285295 34286499 1204 1764
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 34208024 34208293 269 0
CTCF CD4GSE12889 34251089 34251455 366 0
CTCF CD4GSE12889 34254218 34254503 285 0
CTCF CD4GSE12889 34266115 34266295 180 0
CTCF CD4SISSRdata 34208024 34208293 269 0
CTCF CD4SISSRdata 34251089 34251455 366 0
CTCF CD4SISSRdata 34254218 34254503 285 0
CTCF CD4SISSRdata 34266115 34266295 180 0
CTCF HelaGSE12889 34254236 34254561 325 0
CTCF JurkatGSE12889 34208043 34208272 229 0
CTCF JurkatGSE12889 34254178 34254439 261 0
CTCF G2GSE9613 34207669 34208238 569 0
CTCF G2GSE9613 34250808 34251610 802 0
CTCF G2GSE9613 34254177 34254575 398 0
CTCF G2GSE9613 34258706 34259141 435 0
CTCF G2GSE9613 34265720 34266215 495 0
CTCF G2GSE9613 34268556 34269218 662 0
Gata2 K562GSE18868 34234071 34235183 1112 0
H3ac HepG2E 34220717 34221316 599 0
KLF4 hESGSE17917 34246608 34246764 156 0
P300 T30-glioblastomaGSE21026 34219076 34219794 718 0
RING1B hESGSE13084 34218344 34218848 504 0
Rb SenescentGSE19898 34233649 34233928 279 0
hScc1 BcellGSE12603 34207212 34207528 316 0
hScc1 BcellGSE12603 34207989 34208238 249 0
hScc1 BcellGSE12603 34225135 34225354 219 0
hScc1 BcellGSE12603 34250844 34251645 801 0
hScc1 BcellGSE12603 34254177 34254844 667 0
hScc1 CdLSGSE12603 34207918 34208238 320 0
hScc1 CdLSGSE12603 34250735 34251610 875 0
hScc1 G2GSE9613 34250930 34251645 715 0
hScc1 G2GSE9613 34254177 34254575 398 0
p130 shRbQuiescentGSE19898 34213936 34214418 482 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
16324 mRNA EPB41L1 chr20 34163761 34284135 5321 mRNA chr20 34201748 34207069 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