AutismKB 2.0

Annotation Detail for CELSR2


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Basic Information Top
Gene Symbol:CELSR2 ( CDHF10,EGFL2,FLJ34118,FLJ42737,FLJ45143,FLJ45845,Flamingo1,KIAA0279,MEGF3 )
Gene Full Name: cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila)
Band: 1p13.3
Quick LinksEntrez ID:1952; OMIM: 604265; Uniprot ID:CELR2_HUMAN; ENSEMBL ID: ENSG00000143126; HGNC ID: 3231
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
486N-linked (GlcNAc...) (Potential).
557N-linked (GlcNAc...) (Potential).
701N-linked (GlcNAc...) (Potential).
1036N-linked (GlcNAc...) (Potential).
1076N-linked (GlcNAc...) (Potential).
1182N-linked (GlcNAc...) (Potential).
1212N-linked (GlcNAc...) (Potential).
1501N-linked (GlcNAc...) (Potential).
1565N-linked (GlcNAc...) (Potential).
1591(3R)-3-hydroxyasparagine (Potential).
1741N-linked (GlcNAc...) (Potential).
1810(3R)-3-hydroxyasparagine (Potential).
1827N-linked (GlcNAc...) (Potential).
1900N-linked (GlcNAc...) (Potential).
2024N-linked (GlcNAc...) (Potential).
2043N-linked (GlcNAc...) (Potential).
2061N-linked (GlcNAc...) (Potential).
2323N-linked (GlcNAc...) (Potential).
2345N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
486N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
557N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
701N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1036N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1076N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1182N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1212N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1501N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1565N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
15913-hydroxyasparagine (Potential).Swiss-Prot 53.0
1741N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
18103-hydroxyasparagine (Potential).Swiss-Prot 53.0
1827N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1900N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2024N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2043N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2061N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2323N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2345N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
12O-linkedHMM predict
60Phosphoserine(CDC2)HMM predict
124Phosphoserine(ATM)HMM predict
124Phosphoserine(CDK)HMM predict
294Phosphotyrosine(Syk)HMM predict
335Phosphoserine(CDC2)HMM predict
366Phosphothreonine(PKC)HMM predict
381Phosphothreonine(PKC)HMM predict
485O-linkedHMM predict
486N-linkedHMM predict
508O-linkedHMM predict
557N-linkedHMM predict
591O-linkedHMM predict
591O-linkedHMM predict
593O-linkedHMM predict
593O-linkedHMM predict
595O-linkedHMM predict
607N-linkedHMM predict
701N-linkedHMM predict
706N-linkedHMM predict
775SulfotyrosineHMM predict
800Phosphotyrosine(Syk)HMM predict
825Phosphotyrosine(EGFR)HMM predict
825Phosphotyrosine(Syk)HMM predict
875Phosphothreonine(PKC)HMM predict
903Phosphothreonine(MAPK)HMM predict
986Phosphotyrosine(Syk)HMM predict
1005O-linkedHMM predict
1036N-linkedHMM predict
1159Phosphothreonine(MAPK)HMM predict
1274S-palmitoylHMM predict
1276S-palmitoylHMM predict
1368O-linkedHMM predict
1435O-linkedHMM predict
1436O-linkedHMM predict
1437O-linkedHMM predict
1438O-linkedHMM predict
1440Phosphoserine(CDC2)HMM predict
1565N-linkedHMM predict
1635Phosphoserine(ATM)HMM predict
1721SulfotyrosineHMM predict
1741N-linkedHMM predict
1759MethylarginineHMM predict
1768Phosphoserine(PKG)HMM predict
1827N-linkedHMM predict
1830N-linkedHMM predict
1848Phosphoserine(PKA)HMM predict
1848Phosphoserine(PKG)HMM predict
1848PhosphoserineHMM predict
1900N-linkedHMM predict
1913Phosphotyrosine(INSR)HMM predict
2024N-linkedHMM predict
2043N-linkedHMM predict
2061N-linkedHMM predict
2241Phosphoserine(ATM)HMM predict
2241Phosphoserine(CK1)HMM predict
2263Phosphotyrosine(Syk)HMM predict
2303Phosphothreonine(PKC)HMM predict
2345N-linkedHMM predict
2414N-linkedHMM predict
2505Phosphotyrosine(INSR)HMM predict
2505Phosphotyrosine(Syk)HMM predict
2545Phosphoserine(IKK)HMM predict
2629Phosphoserine(CDC2)HMM predict
2635Phosphothreonine(PKC)HMM predict
2635O-linkedHMM predict
2639O-linkedHMM predict
2641O-linkedHMM predict
2665Phosphoserine(CK1)HMM predict
2720Phosphoserine(CK1)HMM predict
2725Phosphoserine(CK1)HMM predict
2740Phosphoserine(CK2)HMM predict
2742Phosphoserine(CK2)HMM predict
2742Phosphoserine(CK1)HMM predict
2777Phosphothreonine(CDC2)HMM predict
2801Phosphoserine(PKG)HMM predict
2830Phosphoserine(IKK)HMM predict
2830O-linkedHMM predict
2831O-linkedHMM predict
2864Phosphoserine(CDC2)HMM predict
2865O-linkedHMM predict
2868Phosphoserine(CK2)HMM predict
2869Phosphoserine(PKB)HMM predict
2874O-linkedHMM predict
2875MethylarginineHMM predict
2887Phosphoserine(PKG)HMM predict
2911Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001408
  • Location:chr1 109594163-109619894
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 109593528 109594569 1041 115
ER MCF7GSE19013 109590078 109591186 1108 3532
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 109621558 109621962 404 1866
CTCF CD4SISSRdata 109621558 109621962 404 1866
CTCF HelaGSE12889 109621574 109621906 332 1846
CTCF JurkatGSE12889 109621566 109621948 382 1863
CTCF G2GSE9613 109621511 109622008 497 1865
hScc1 CdLSGSE12603 109621511 109622044 533 1883
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 109607751 109608107 356 0
CTCF CD4SISSRdata 109607751 109608107 356 0
CTCF G2GSE9613 109597535 109597885 350 0
CTCF G2GSE9613 109598493 109598979 486 0
CTCF G2GSE9613 109599664 109599960 296 0
CTCF G2GSE9613 109600432 109600744 312 0
CTCF G2GSE9613 109602909 109603333 424 0
CTCF G2GSE9613 109604800 109605018 218 0
CTCF G2GSE9613 109607321 109608580 1259 0
CTCF G2GSE9613 109609264 109610113 849 0
CTCF G2GSE9613 109610366 109610515 149 0
CTCF G2GSE9613 109612028 109612600 572 0
CTCF G2GSE9613 109613291 109613763 472 0
CTCF G2GSE9613 109616765 109617533 768 0
FOXA1 MCF7GSE15244 109618616 109619760 1144 0
FoxA1 MCF7MACSdata 109618861 109619192 331 0
Myc K562GSE19551 109607679 109608253 574 0
Myc hESGSE17917 109607662 109608067 405 0
RARA MCF7GSE15244 109594639 109595139 500 0
RARA MCF7GSE15244 109595889 109598238 2349 0
RARA MCF7GSE15244 109618476 109619970 1494 0
RARG MCF7GSE15244 109618476 109619945 1469 0
TFAP2C MCF7GSE21234 109601355 109602138 783 0
TFAP2C MCF7GSE21234 109607062 109608297 1235 0
TFAP2C MCF7GSE21234 109618563 109619684 1121 0
hScc1 BcellGSE12603 109596988 109598026 1038 0
hScc1 BcellGSE12603 109600625 109600763 138 0
hScc1 BcellGSE12603 109602909 109603263 354 0
hScc1 BcellGSE12603 109607346 109608661 1315 0
hScc1 BcellGSE12603 109610297 109610515 218 0
hScc1 BcellGSE12603 109618681 109618904 223 0
hScc1 CdLSGSE12603 109607523 109608291 768 0
hScc1 G2GSE9613 109607321 109608393 1072 0
p63 keratinocytesGSE17611 109606947 109608359 1412 0
Validated miRNA targets Top
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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