AutismKB 2.0

Annotation Detail for EPB49


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Basic Information Top
Gene Symbol:EPB49 ( DMT,FLJ78462,FLJ98848 )
Gene Full Name: erythrocyte membrane protein band 4.9 (dematin)
Band: 8p21.1
Quick LinksEntrez ID:2039; OMIM: 125305; Uniprot ID:DEMA_HUMAN; ENSEMBL ID: ENSG00000158856; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
10Phosphothreonine.
14Phosphoserine.
16Phosphoserine.
22Phosphoserine.
26Phosphoserine.
28Phosphoserine.
87Phosphoserine (By similarity).
91Phosphothreonine (By similarity).
92Phosphoserine.
96Phosphoserine.
105Phosphoserine.
156Phosphoserine.
226Phosphoserine.
289Phosphoserine.
333Phosphoserine.
372Phosphoserine.
403Phosphoserine; by PKA.
Location(AA) Modifications Resource
87Phosphoserine (By similarity).Swiss-Prot 53.0
91Phosphothreonine (By similarity).Swiss-Prot 53.0
92Phosphoserine (By similarity).Swiss-Prot 53.0
156Phosphoserine (By similarity).Swiss-Prot 53.0
226Phosphoserine (By similarity).Swiss-Prot 53.0
289Phosphoserine (By similarity).Swiss-Prot 53.0
333Phosphoserine (By similarity).Swiss-Prot 53.0
372Phosphoserine (By similarity).Swiss-Prot 53.0
403Phosphoserine (by PKA).Swiss-Prot 53.0
403Phosphoserine (PKA
Location(AA) Modification Resource
11Phosphoserine(CDC2)HMM predict
11O-linkedHMM predict
11Phosphoserine(MAPK)HMM predict
14Phosphoserine(IKK)HMM predict
16Phosphoserine(CDC2)HMM predict
22Phosphoserine(IKK)HMM predict
22Phosphoserine(ATM)HMM predict
22Phosphoserine(PKB)HMM predict
22Phosphoserine(CK1)HMM predict
22Phosphoserine(CAMK2)HMM predict
26Phosphoserine(ATM)HMM predict
26PhosphoserineHMM predict
26Phosphoserine(CDK)HMM predict
26Phosphoserine(CDC2)HMM predict
26Phosphoserine(IKK)HMM predict
85Phosphoserine(PKG)HMM predict
87Phosphoserine(ATM)HMM predict
87Phosphoserine(CDC2)HMM predict
87Phosphoserine(IKK)HMM predict
91O-linkedHMM predict
91O-linkedHMM predict
92Phosphoserine(IKK)HMM predict
105Phosphoserine(ATM)HMM predict
118O-linkedHMM predict
118O-linkedHMM predict
120O-linkedHMM predict
120Phosphothreonine(MAPK)HMM predict
141Phosphotyrosine(Syk)HMM predict
156Phosphoserine(CDK)HMM predict
156Phosphoserine(CDC2)HMM predict
211PhosphoserineHMM predict
211Phosphoserine(PKA)HMM predict
211Phosphoserine(PKG)HMM predict
211Phosphoserine(PKC)HMM predict
226Phosphoserine(IKK)HMM predict
226Phosphoserine(CK1)HMM predict
226Phosphoserine(ATM)HMM predict
226Phosphoserine(CK2)HMM predict
242Phosphoserine(CK1)HMM predict
267Phosphothreonine(PKA)HMM predict
274Phosphothreonine(MAPK)HMM predict
289Phosphoserine(CK1)HMM predict
303PhosphoserineHMM predict
307O-linkedHMM predict
307Phosphoserine(CDC2)HMM predict
307Phosphoserine(CDK)HMM predict
309Phosphoserine(ATM)HMM predict
309O-linkedHMM predict
311Phosphoserine(CK1)HMM predict
315Phosphoserine(IKK)HMM predict
325MethylarginineHMM predict
372Phosphoserine(PKG)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001978
  • Location:chr8 21972679-21995980
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 21967566 21967787 221 5003
CTCF CD4SISSRdata 21967566 21967787 221 5003
CTCF HelaGSE12889 21967545 21967709 164 5053
CTCF G2GSE9613 21970468 21970766 298 2063
CTCF G2GSE9613 21971069 21971831 762 1230
NRSF pAbJurkat 21970966 21971317 351 1538
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 21996205 21996826 621 535
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 21980234 21980509 275 0
CTCF CD4SISSRdata 21980234 21980509 275 0
CTCF JurkatGSE12889 21980188 21980506 318 0
CTCF G2GSE9613 21972743 21973673 930 0
CTCF G2GSE9613 21979923 21980710 787 0
CTCF G2GSE9613 21982246 21982769 523 0
CTCF G2GSE9613 21983315 21983682 367 0
CTCF G2GSE9613 21990333 21990681 348 0
FOXA1 MCF7GSE15244 21982246 21982547 301 0
Gata2 K562GSE18868 21973081 21973802 721 0
NRSF pAbJurkat 21990259 21990583 324 0
TFAP2C MCF7GSE21234 21983347 21983866 519 0
TFAP2C MCF7GSE21234 21995192 21995873 681 0
hScc1 BcellGSE12603 21979810 21980560 750 0
hScc1 CdLSGSE12603 21979769 21980677 908 0
hScc1 G2GSE9613 21979847 21980595 748 0
Validated miRNA targets Top
Cis-Nats regulation Top

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  (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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