AutismKB 2.0

Annotation Detail for CD44


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:CD44 ( CDW44,CSPG8,ECMR-III,HCELL,HUTCH-I,IN,LHR,MC56,MDU2,MDU3,MGC10468,MIC4,Pgp1 )
Gene Full Name: CD44 molecule (Indian blood group)
Band: 11p13
Quick LinksEntrez ID:960; OMIM: 107269; Uniprot ID:CD44_HUMAN; ENSEMBL ID: ENSG00000026508; HGNC ID: 1681
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
21Pyrrolidone carboxylic acid (Probable).
25N-linked (GlcNAc...) (Potential).
57N-linked (GlcNAc...).
100N-linked (GlcNAc...) (Potential).
110N-linked (GlcNAc...).
120N-linked (GlcNAc...) (Potential).
350N-linked (GlcNAc...) (Potential).
548N-linked (GlcNAc...) (Potential).
599N-linked (GlcNAc...) (Potential).
636N-linked (GlcNAc...) (Potential).
672Phosphoserine; by PKC.
686Phosphoserine.
697Phosphoserine.
706Phosphoserine.
720Phosphothreonine.
Location(AA) Modifications Resource
21Pyrrolidone carboxylic acid (Probable).Swiss-Prot 53.0
25N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
57N-linked (GlcNAc...).Swiss-Prot 53.0
100N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
110N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
120N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
291Phosphoserine (PKC
350N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
548N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
599N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
636N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
672Phosphoserine (PKC alpha)Phospho.ELM 6.0
672Phosphoserine; by PKC.Swiss-Prot 53.0
686PhosphoserinePhospho.ELM 6.0
686Phosphoserine.Swiss-Prot 53.0
697Phosphoserine.Swiss-Prot 53.0
697PhosphoserinePhospho.ELM 6.0
706Phosphoserine.Swiss-Prot 53.0
706PhosphoserinePhospho.ELM 6.0
720Phosphothreonine.Swiss-Prot 53.0
720PhosphothreoninePhospho.ELM 6.0
Location(AA) Modification Resource
25N-linkedHMM predict
57N-linkedHMM predict
100N-linkedHMM predict
101N-linkedHMM predict
110N-linkedHMM predict
112Phosphoserine(ATM)HMM predict
120N-linkedHMM predict
131Phosphoserine(CK1)HMM predict
131Phosphoserine(IKK)HMM predict
172N-linkedHMM predict
180Phosphoserine(CK1)HMM predict
187Phosphoserine(CK1)HMM predict
188Phosphoserine(CK1)HMM predict
223O-linkedHMM predict
226O-linkedHMM predict
228O-linkedHMM predict
267O-linkedHMM predict
293Phosphoserine(CK1)HMM predict
307O-linkedHMM predict
311Phosphothreonine(MAPK)HMM predict
328N-linkedHMM predict
333N-linkedHMM predict
350N-linkedHMM predict
378Phosphothreonine(MAPK)HMM predict
383O-linkedHMM predict
384O-linkedHMM predict
384O-linkedHMM predict
388Phosphothreonine(MAPK)HMM predict
388O-linkedHMM predict
392O-linkedHMM predict
415Phosphothreonine(MAPK)HMM predict
420Phosphoserine(IKK)HMM predict
422Phosphoserine(CK1)HMM predict
422PhosphoserineHMM predict
422Phosphoserine(IKK)HMM predict
426O-linkedHMM predict
430O-linkedHMM predict
442Phosphothreonine(MAPK)HMM predict
444Phosphoserine(CDC2)HMM predict
444Phosphoserine(CDK)HMM predict
478Phosphoserine(CK1)HMM predict
484O-linkedHMM predict
508Phosphoserine(IKK)HMM predict
512Phosphoserine(IKK)HMM predict
531O-linkedHMM predict
548N-linkedHMM predict
577O-linkedHMM predict
587O-linkedHMM predict
599N-linkedHMM predict
623Phosphoserine(ATM)HMM predict
630Phosphoserine(ATM)HMM predict
636N-linkedHMM predict
638O-linkedHMM predict
697Phosphoserine(PKG)HMM predict
718Phosphoserine(CK2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001001392
  • Location:chr11 35116992-35210521
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 35101933 35102019 86 15017
ER E2-MCF7GSE14664 35106038 35106135 97 10906
NFkBII GM12878GSE19485 35103760 35106540 2780 11843
NFkBII GM15510GSE19485 35103552 35106490 2938 11972
Oct1 HelaGSE14283 35107436 35107476 40 9537
Rb QuiescentGSE19898 35116637 35117311 674 19
TAF HelaGSE8489 35115601 35116122 521 1131
VDR GM10855-stimGSE22484 35103666 35106585 2919 11867
VDR GM10861-stimGSE22484 35103252 35107566 4314 11584
hScc1 CdLSGSE12603 35104572 35105263 691 12075
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 35216347 35216701 354 6003
CTCF CD4SISSRdata 35216347 35216701 354 6003
hScc1 BcellGSE12603 35216022 35216665 643 5822
hScc1 CdLSGSE12603 35216058 35216846 788 5931
hScc1 G2GSE9613 35216094 35216665 571 5858
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 35121717 35123464 1747 0
ER E2-MCF7GSE14664 35179888 35180008 120 0
ER Fulvestrant-MCF7GSE14664 35179888 35179964 76 0
FOXA1 DLD1GSE12801 35122899 35123886 987 0
Fos K562GSE19551 35133037 35133593 556 0
H3K4me3 colorectalcancer 35117970 35118725 755 0
Nanog hESGSE18292 35130074 35130337 263 0
Oct1 HelaGSE14283 35201641 35201677 36 0
Oct4 hESGSE21916 35129981 35130519 538 0
Rb SenescentGSE19898 35116712 35117378 666 0
Rb shRbQuiescentGSE19898 35116793 35117242 449 0
Rb shRbSenescenceGSE19898 35116714 35117350 636 0
Stat6 IL-4-hr4GSE17850 35155305 35155949 644 0
TFAP2C MCF7GSE21234 35144623 35145176 553 0
hScc1 BcellGSE12603 35116538 35118111 1573 0
hScc1 BcellGSE12603 35141754 35142225 471 0
hScc1 CdLSGSE12603 35117142 35117898 756 0
hScc1 CdLSGSE12603 35120558 35120852 294 0
hScc1 CdLSGSE12603 35141534 35142481 947 0
hScc1 CdLSGSE12603 35143760 35144729 969 0
hScc1 G2GSE9613 35117241 35117970 729 0
p130 SenescentGSE19898 35116784 35117371 587 0
p130 shRbQuiescentGSE19898 35117672 35118309 637 0
p130 shRbSenescentGSE19898 35116720 35117406 686 0
p130 shRbSenescentGSE19898 35117739 35118053 314 0
p63 keratinocytesGSE17611 35136604 35137525 921 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-10b hsa-mir-10b 2 20843787
hsa-miR-10b hsa-mir-10b 2 18373886
hsa-miR-10b* hsa-mir-10b 2 20843787
hsa-miR-10b* hsa-mir-10b 2 18373886
hsa-miR-126 hsa-mir-126 9 18373886
hsa-miR-126* hsa-mir-126 9 18373886
hsa-miR-140-3p hsa-mir-140 16 19734943
hsa-miR-140-5p hsa-mir-140 16 19734943
hsa-miR-199a-3p hsa-mir-199a-2 1 20400975
hsa-miR-199a-5p hsa-mir-199a-2 1 20400975
hsa-miR-200c hsa-mir-200c 12 21294122
hsa-miR-200c hsa-mir-200c 12 21207483
hsa-miR-200c* hsa-mir-200c 12 21294122
hsa-miR-200c* hsa-mir-200c 12 21207483
hsa-miR-206 hsa-mir-206 6 18373886
hsa-miR-21 hsa-mir-21 17 19633292
hsa-miR-21* hsa-mir-21 17 19633292
hsa-miR-214 hsa-mir-214 1 20400975
hsa-miR-214* hsa-mir-214 1 20400975
hsa-miR-216a hsa-mir-216a 2 21149267
hsa-miR-328 hsa-mir-328 16 18560585
hsa-miR-330-3p hsa-mir-330 19 21149267
hsa-miR-330-5p hsa-mir-330 19 21149267
hsa-miR-335 hsa-mir-335 7 18373886
hsa-miR-335* hsa-mir-335 7 18373886
hsa-miR-34a hsa-mir-34a 1 21240262
hsa-miR-34a hsa-mir-34a 1 19714243
hsa-miR-34a* hsa-mir-34a 1 21240262
hsa-miR-34a* hsa-mir-34a 1 19714243
hsa-miR-34b hsa-mir-34b 11 19714243
hsa-miR-34b* hsa-mir-34b 11 19714243
hsa-miR-34c-3p hsa-mir-34c 11 19714243
hsa-miR-34c-5p hsa-mir-34c 11 19714243
hsa-miR-373 hsa-mir-373 19 18373886
hsa-miR-373 hsa-mir-373 19 18193036
hsa-miR-373 hsa-mir-373 19 19158933
hsa-miR-373* hsa-mir-373 19 18373886
hsa-miR-373* hsa-mir-373 19 18193036
hsa-miR-373* hsa-mir-373 19 19158933
hsa-miR-495 hsa-mir-495 14 21258409
hsa-miR-520c-3p hsa-mir-520c 19 18373886
hsa-miR-520c-3p hsa-mir-520c 19 18193036
hsa-miR-520c-3p hsa-mir-520c 19 19158933
hsa-miR-520c-5p hsa-mir-520c 19 18373886
hsa-miR-520c-5p hsa-mir-520c 19 18193036
hsa-miR-520c-5p hsa-mir-520c 19 19158933
hsa-miR-608 hsa-mir-608 10 21149267
No data
Cis-Nats regulation Top

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