AutismKB 2.0

Annotation Detail for CDH1


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Basic Information Top
Gene Symbol:CDH1 ( Arc-1,CD324,CDHE,ECAD,LCAM,UVO )
Gene Full Name: cadherin 1, type 1, E-cadherin (epithelial)
Band: 16q22.1
Quick LinksEntrez ID:999; OMIM: 192090; Uniprot ID:CADH1_HUMAN; ENSEMBL ID: ENSG00000039068; HGNC ID: 1748
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
558N-linked (GlcNAc...).
570N-linked (GlcNAc...).
622N-linked (GlcNAc...).
637N-linked (GlcNAc...).
838Phosphoserine (By similarity).
840Phosphoserine (By similarity).
846Phosphoserine (By similarity).
Location(AA) Modifications Resource
558N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
637N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
838Phosphoserine (By similarity).Swiss-Prot 53.0
840Phosphoserine (By similarity).Swiss-Prot 53.0
846Phosphoserine (By similarity).Swiss-Prot 53.0
851Phosphoserine (CK2
Location(AA) Modification Resource
84Phosphothreonine(PKC)HMM predict
358O-linkedHMM predict
360O-linkedHMM predict
376N-linkedHMM predict
406Phosphothreonine(MAPK)HMM predict
467O-linkedHMM predict
469O-linkedHMM predict
469O-linkedHMM predict
472O-linkedHMM predict
474O-linkedHMM predict
544Phosphothreonine(PKC)HMM predict
558N-linkedHMM predict
570N-linkedHMM predict
622N-linkedHMM predict
624Phosphoserine(CDC2)HMM predict
637N-linkedHMM predict
643N-linkedHMM predict
753SulfotyrosineHMM predict
754SulfotyrosineHMM predict
770Phosphoserine(ATM)HMM predict
790Phosphothreonine(PKC)HMM predict
823O-linkedHMM predict
838Phosphoserine(CK2)HMM predict
840Phosphoserine(CK2)HMM predict
840Phosphoserine(IKK)HMM predict
847Phosphoserine(CK1)HMM predict
849N-linkedHMM predict
850Phosphoserine(CK1)HMM predict
853Phosphoserine(CK1)HMM predict
867AsparagineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004360
  • Location:chr16 67328695-67426944
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER Breast-CancerGSE22609 67326189 67326662 473 2270
NFkBII GM12878GSE19485 67311010 67312445 1435 16968
NFkBII GM18526GSE19485 67311195 67312381 1186 16908
Nanog hESGSE18292 67324063 67324377 314 4476
RARA MCF7GSE15244 67323382 67324446 1064 4782
TFAP2C MCF7GSE21234 67323343 67324516 1173 4766
hScc1 BcellGSE12603 67328395 67328947 552 25
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 67434885 67435600 715 8298
ETS1 JurkatGSE17954 67434525 67435869 1344 8253
H3K4me3 colorectalcancer 67434885 67436040 1155 8518
H3ac HepG2E 67435276 67436040 764 8714
P300 T0-glioblastomaGSE21026 67434618 67435370 752 8050
P300 T30-glioblastomaGSE21026 67434529 67435992 1463 8316
PHF8 293TGSE20725 67434600 67435772 1172 8242
PHF8 HeLaGSE20725 67434550 67435703 1153 8182
PHF8 Hs68minusFBSGSE20725 67434672 67435973 1301 8378
TAF HelaGSE8489 67434885 67436040 1155 8518
TAF k562GSE8489 67434885 67436040 1155 8518
USF1 HepG2E 67435380 67436040 660 8766
hScc1 BcellGSE12603 67434885 67435501 616 8249
hScc1 BcellGSE12603 67438805 67439095 290 12006
hScc1 CdLSGSE12603 67434885 67435819 934 8408
hScc1 CdLSGSE12603 67438805 67439095 290 12006
p130 SenescentGSE19898 67435514 67435813 299 8719
p130 shRbSenescentGSE19898 67434918 67435172 254 8101
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 67391772 67392042 270 0
CTCF CD4SISSRdata 67391772 67392042 270 0
CTCF G2GSE9613 67391802 67392017 215 0
ER E2-MCF7GSE14664 67424424 67424467 43 0
ER MCF7GSE19013 67336706 67338163 1457 0
FOXA1 MCF7GSE15244 67335937 67336581 644 0
FOXA1 MCF7GSE15244 67340643 67341257 614 0
FOXA1 MCF7GSE15244 67347479 67348089 610 0
FoxA1 MCF7MACSdata 67336087 67336593 506 0
Gata1 K562GSE18868 67356174 67356758 584 0
Gata2 K562GSE18868 67356138 67356743 605 0
NFkBII GM12878GSE19485 67351738 67353029 1291 0
Nanog hESGSE18292 67336088 67336468 380 0
Nanog hESGSE18292 67354864 67355207 343 0
Nanog hESGSE18292 67400069 67400369 300 0
Oct4 hESGSE21916 67354543 67355432 889 0
RARA MCF7GSE15244 67336010 67336581 571 0
RARA MCF7GSE15244 67347479 67348089 610 0
RARA MCF7GSE15244 67381621 67382398 777 0
STAT1 HeLaGSE12782 67369260 67371037 1777 0
STAT1 HeLaGSE12783 67369381 67370989 1608 0
TAFII hESGSE17917 67328437 67329072 635 0
TFAP2C MCF7GSE21234 67337024 67337752 728 0
TFAP2C MCF7GSE21234 67381446 67382038 592 0
USF1 HepG2E 67377973 67378605 632 0
USF2 HepG2E 67377973 67378605 632 0
hScc1 BcellGSE12603 67373661 67374178 517 0
hScc1 BcellGSE12603 67391802 67392254 452 0
hScc1 CdLSGSE12603 67352363 67352651 288 0
hScc1 CdLSGSE12603 67391802 67392053 251 0
p63 keratinocytesGSE17611 67377959 67378587 628 0
p63 keratinocytesGSE17611 67389627 67390607 980 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-141 hsa-mir-141 12 19502803
hsa-miR-141* hsa-mir-141 12 19502803
hsa-miR-192 hsa-mir-192 11 20056746
hsa-miR-192 hsa-mir-192 11 18805502
hsa-miR-192* hsa-mir-192 11 20056746
hsa-miR-192* hsa-mir-192 11 18805502
hsa-miR-200a hsa-mir-200a 1 19703993
hsa-miR-200a* hsa-mir-200a 1 19703993
hsa-miR-200b hsa-mir-200b 1 19502803
hsa-miR-200b* hsa-mir-200b 1 19502803
hsa-miR-200c hsa-mir-200c 12 19502803
hsa-miR-200c* hsa-mir-200c 12 19502803
hsa-miR-205 hsa-mir-205 1 19502803
hsa-miR-9 hsa-mir-9-1 1 20173740
hsa-miR-9 hsa-mir-9-2 5 20173740
hsa-miR-9 hsa-mir-9-3 15 20173740
hsa-miR-9 hsa-mir-9-1 1 19572217
hsa-miR-9 hsa-mir-9-2 5 19572217
hsa-miR-9 hsa-mir-9-3 15 19572217
hsa-miR-9* hsa-mir-9-3 15 20173740
hsa-miR-9* hsa-mir-9-1 1 20173740
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


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