AutismKB 2.0

Annotation Detail for CELSR1


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Basic Information Top
Gene Symbol:CELSR1 ( CDHF9,DKFZp434P0729,FMI2,HFMI2,ME2 )
Gene Full Name: cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila)
Band: 22q13.31
Quick LinksEntrez ID:9620; OMIM: 604523; Uniprot ID:CELR1_HUMAN; ENSEMBL ID: ENSG00000075275; HGNC ID: 1850
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
403N-linked (GlcNAc...) (Potential).
546N-linked (GlcNAc...) (Potential).
634N-linked (GlcNAc...) (Potential).
778N-linked (GlcNAc...) (Potential).
1114N-linked (GlcNAc...) (Potential).
1139N-linked (GlcNAc...) (Potential).
1213N-linked (GlcNAc...) (Potential).
1249N-linked (GlcNAc...) (Potential).
1259N-linked (GlcNAc...) (Potential).
1287N-linked (GlcNAc...) (Potential).
1576N-linked (GlcNAc...) (Potential).
1623N-linked (GlcNAc...) (Potential).
1640N-linked (GlcNAc...) (Potential).
1666(3R)-3-hydroxyasparagine (Potential).
1889(3R)-3-hydroxyaspartate (Potential).
1979N-linked (GlcNAc...) (Potential).
2103N-linked (GlcNAc...) (Potential).
2122N-linked (GlcNAc...) (Potential).
2257N-linked (GlcNAc...) (Potential).
2415N-linked (GlcNAc...) (Potential).
2437N-linked (GlcNAc...) (Potential).
2523N-linked (GlcNAc...) (Potential).
2761Phosphoserine.
2764Phosphoserine.
Location(AA) Modifications Resource
403N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
546N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
634N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
778N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1114N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1139N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1213N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1249N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1259N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1287N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1576N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1623N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1640N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
16663-hydroxyasparagine (Potential).Swiss-Prot 53.0
18893-hydroxyaspartate (Potential).Swiss-Prot 53.0
1979N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2103N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2122N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2257N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2415N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2437N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2523N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
57Phosphothreonine(CDC2)HMM predict
57Phosphothreonine(MAPK)HMM predict
80Phosphoserine(PKC)HMM predict
80Phosphoserine(PKG)HMM predict
80Phosphoserine(CAMK2)HMM predict
80Phosphoserine(PKA)HMM predict
185S-palmitoylHMM predict
207O-linkedHMM predict
207O-linkedHMM predict
207Phosphothreonine(MAPK)HMM predict
209O-linkedHMM predict
209O-linkedHMM predict
211O-linkedHMM predict
211Phosphoserine(CDC2)HMM predict
211Phosphoserine(CDK)HMM predict
211Phosphoserine(ATM)HMM predict
211PhosphoserineHMM predict
213O-linkedHMM predict
213Phosphoserine(CDC2)HMM predict
213Phosphoserine(ATM)HMM predict
213Phosphoserine(IKK)HMM predict
215O-linkedHMM predict
215Phosphoserine(ATM)HMM predict
237Phosphothreonine(PKC)HMM predict
238Phosphoserine(PKB)HMM predict
238PhosphoserineHMM predict
240MethylarginineHMM predict
330Phosphothreonine(MAPK)HMM predict
330Phosphothreonine(CDK)HMM predict
410O-linkedHMM predict
442O-linkedHMM predict
456Phosphotyrosine(EGFR)HMM predict
456SulfotyrosineHMM predict
546N-linkedHMM predict
634N-linkedHMM predict
668O-linkedHMM predict
668O-linkedHMM predict
669O-linkedHMM predict
672Phosphoserine(CK1)HMM predict
672Phosphoserine(IKK)HMM predict
758Phosphotyrosine(SRC)HMM predict
778N-linkedHMM predict
783N-linkedHMM predict
810O-linkedHMM predict
845Phosphotyrosine(INSR)HMM predict
845Phosphotyrosine(Abl)HMM predict
852SulfotyrosineHMM predict
942Phosphotyrosine(EGFR)HMM predict
942Phosphotyrosine(INSR)HMM predict
952Phosphothreonine(PKC)HMM predict
977Phosphothreonine(MAPK)HMM predict
1083O-linkedHMM predict
1114N-linkedHMM predict
1117N-linkedHMM predict
1139N-linkedHMM predict
1181Phosphoserine(ATM)HMM predict
1213N-linkedHMM predict
1221Phosphoserine(CDK)HMM predict
1249N-linkedHMM predict
1259N-linkedHMM predict
1287N-linkedHMM predict
1351S-palmitoylHMM predict
1435Phosphotyrosine(INSR)HMM predict
1435Phosphotyrosine(SRC)HMM predict
1435Phosphotyrosine(Syk)HMM predict
1511O-linkedHMM predict
1512O-linkedHMM predict
1513O-linkedHMM predict
1577Phosphotyrosine(INSR)HMM predict
1640N-linkedHMM predict
1675S-palmitoylHMM predict
1800SulfotyrosineHMM predict
1838MethylarginineHMM predict
1878O-linkedHMM predict
1879Phosphoserine(CDC2)HMM predict
1925Phosphoserine(CDC2)HMM predict
1928Phosphoserine(CDC2)HMM predict
1953S-palmitoylHMM predict
1979N-linkedHMM predict
1982N-linkedHMM predict
2003S-palmitoylHMM predict
2080O-linkedHMM predict
2103N-linkedHMM predict
2122N-linkedHMM predict
2257N-linkedHMM predict
2282Phosphoserine(IKK)HMM predict
2307Phosphothreonine(PKA)HMM predict
2307Phosphothreonine(CDK)HMM predict
2310O-linkedHMM predict
2311O-linkedHMM predict
2437N-linkedHMM predict
2473Phosphotyrosine(Jak)HMM predict
2523N-linkedHMM predict
2527N-linkedHMM predict
2597Phosphotyrosine(INSR)HMM predict
2597Phosphotyrosine(Syk)HMM predict
2728Phosphothreonine(PKC)HMM predict
2732Phosphothreonine(PKA)HMM predict
2741N-linkedHMM predict
2807Phosphoserine(CK1)HMM predict
2809Phosphoserine(CK1)HMM predict
2809Phosphoserine(IKK)HMM predict
2812Phosphoserine(CK1)HMM predict
2818Phosphoserine(CK1)HMM predict
2819Phosphoserine(IKK)HMM predict
2819Phosphoserine(PKB)HMM predict
2825Phosphoserine(CK1)HMM predict
2826Phosphoserine(CK2)HMM predict
2826Phosphoserine(ATM)HMM predict
2828Phosphoserine(CK1)HMM predict
2828Phosphoserine(CK2)HMM predict
2849Phosphothreonine(CDK)HMM predict
2871Phosphoserine(CK2)HMM predict
2871Phosphoserine(ATM)HMM predict
2919Phosphoserine(ATM)HMM predict
2963O-linkedHMM predict
2963Phosphoserine(CDK)HMM predict
2964O-linkedHMM predict
2967Phosphoserine(CK1)HMM predict
2967Phosphoserine(IKK)HMM predict
2968Phosphoserine(CK1)HMM predict
2968Phosphoserine(IKK)HMM predict
2968Phosphoserine(PKB)HMM predict
2982Phosphoserine(CDC2)HMM predict
3009Phosphoserine(CK2)HMM predict
3009Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_014246
  • Location:chr22 45135394-45311730
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 45316835 45317158 323 5266
CTCF CD4SISSRdata 45316835 45317158 323 5266
CTCF HelaGSE12889 45316784 45317187 403 5255
CTCF JurkatGSE12889 45316837 45317192 355 5284
CTCF G2GSE9613 45316706 45317354 648 5300
LIN9 G0GSE7516 45312665 45313521 856 1363
NFkBII GM10847GSE19485 45319543 45320581 1038 8332
NFkBII GM12878GSE19485 45319257 45320663 1406 8230
NFkBII GM12892GSE19485 45319318 45320699 1381 8278
RARG MCF7GSE15244 45314072 45314355 283 2483
hScc1 BcellGSE12603 45316672 45317354 682 5283
hScc1 BcellGSE12603 45325847 45326396 549 14391
hScc1 CdLSGSE12603 45316672 45317655 983 5433
hScc1 G2GSE9613 45316381 45317354 973 5137
p130 QuiescentGSE19898 45316874 45317120 246 5267
p130 shRbSenescentGSE19898 45321462 45321787 325 9894
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 45142248 45142472 224 0
CTCF CD4SISSRdata 45142248 45142472 224 0
CTCF HelaGSE12889 45142202 45142514 312 0
CTCF JurkatGSE12889 45142116 45142525 409 0
CTCF G2GSE9613 45141506 45142672 1166 0
CTCF G2GSE9613 45148534 45148868 334 0
CTCF G2GSE9613 45164938 45165854 916 0
CTCF G2GSE9613 45310984 45311637 653 0
ER MCF7GSE19013 45148358 45148753 395 0
ER MCF7GSE19013 45152062 45152674 612 0
ER MCF7GSE19013 45173947 45174644 697 0
ER MCF7GSE19013 45232445 45233073 628 0
ER MCF7GSE19013 45240272 45241184 912 0
ER MCF7GSE19013 45266399 45266949 550 0
FOXA1 MCF7GSE15244 45165093 45166222 1129 0
FOXA1 MCF7GSE15244 45218369 45219180 811 0
FOXA1 MCF7GSE15244 45259299 45260145 846 0
FOXA1 MCF7GSE15244 45302691 45303110 419 0
FOXA1 MCF7GSE15244 45307424 45309861 2437 0
Fos K562GSE19551 45237236 45237583 347 0
Fos K562GSE19551 45302687 45303191 504 0
Gata1 K562GSE18868 45230564 45231087 523 0
Gata2 K562GSE18868 45230672 45231026 354 0
H3ac HepG2E 45165576 45165954 378 0
Myc K562GSE19551 45230528 45231114 586 0
Myc hESGSE17917 45244777 45244980 203 0
NFkBII GM12878GSE19485 45188806 45190013 1207 0
NFkBII GM12878GSE19485 45262321 45263748 1427 0
NFkBII GM12878GSE19485 45288143 45289402 1259 0
Nanog ESGSE20650 45274681 45275242 561 0
Nanog hESGSE18292 45297568 45297740 172 0
P300 T30-glioblastomaGSE21026 45302149 45303501 1352 0
RARA MCF7GSE15244 45240230 45241010 780 0
RARA MCF7GSE15244 45302691 45303088 397 0
RARA MCF7GSE15244 45307603 45307866 263 0
RARG MCF7GSE15244 45302691 45303110 419 0
RARG MCF7GSE15244 45308447 45309574 1127 0
Rb shRbQuiescentGSE19898 45181639 45181882 243 0
TFAP2C MCF7GSE21234 45149664 45150107 443 0
TFAP2C MCF7GSE21234 45152108 45152531 423 0
TFAP2C MCF7GSE21234 45165491 45165991 500 0
TFAP2C MCF7GSE21234 45183130 45183451 321 0
TFAP2C MCF7GSE21234 45229422 45229809 387 0
TFAP2C MCF7GSE21234 45232044 45233020 976 0
TFAP2C MCF7GSE21234 45240297 45241122 825 0
TFAP2C MCF7GSE21234 45266466 45266968 502 0
TFAP2C MCF7GSE21234 45297248 45297720 472 0
TFAP2C MCF7GSE21234 45300035 45300421 386 0
TFAP2C MCF7GSE21234 45300488 45300971 483 0
hScc1 BcellGSE12603 45139890 45140340 450 0
hScc1 BcellGSE12603 45141638 45143392 1754 0
hScc1 BcellGSE12603 45147955 45148555 600 0
hScc1 BcellGSE12603 45149590 45149993 403 0
hScc1 BcellGSE12603 45160839 45161240 401 0
hScc1 BcellGSE12603 45169398 45170141 743 0
hScc1 BcellGSE12603 45195715 45196196 481 0
hScc1 BcellGSE12603 45213735 45214647 912 0
hScc1 BcellGSE12603 45215741 45215991 250 0
hScc1 BcellGSE12603 45217910 45218657 747 0
hScc1 BcellGSE12603 45220195 45221251 1056 0
hScc1 BcellGSE12603 45236485 45236816 331 0
hScc1 BcellGSE12603 45239145 45239780 635 0
hScc1 BcellGSE12603 45258504 45258818 314 0
hScc1 BcellGSE12603 45262780 45263181 401 0
hScc1 BcellGSE12603 45274306 45274960 654 0
hScc1 BcellGSE12603 45280780 45281220 440 0
hScc1 BcellGSE12603 45283135 45283911 776 0
hScc1 BcellGSE12603 45290206 45290385 179 0
hScc1 BcellGSE12603 45291213 45291396 183 0
hScc1 BcellGSE12603 45300341 45300615 274 0
hScc1 BcellGSE12603 45300908 45301483 575 0
hScc1 BcellGSE12603 45309303 45310661 1358 0
hScc1 BcellGSE12603 45310907 45311930 1023 0
hScc1 CdLSGSE12603 45142213 45143073 860 0
hScc1 CdLSGSE12603 45273204 45273420 216 0
hScc1 CdLSGSE12603 45310628 45312665 2037 0
hScc1 G2GSE9613 45165021 45165822 801 0
p63 keratinocytesGSE17611 45211123 45212181 1058 0
p63 keratinocytesGSE17611 45217878 45218726 848 0
p63 keratinocytesGSE17611 45288797 45290605 1808 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
17614 EST chr22 45077252 45077723 432 mRNA CELSR1 chr22 45077249 45253586Sense/Antisense (SA) 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


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