AutismKB 2.0

Annotation Detail for CSMD2


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Basic Information Top
Gene Symbol:CSMD2 ( KIAA1884,dJ1007G16.1,dJ1007G16.2,dJ947L8.1 )
Gene Full Name: CUB and Sushi multiple domains 2
Band: 1p35.1
Quick LinksEntrez ID:114784; OMIM: 608398; Uniprot ID:CSMD2_HUMAN; ENSEMBL ID: ENSG00000121904; HGNC ID: 19290
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
25N-linked (GlcNAc...) (Potential).
34N-linked (GlcNAc...) (Potential).
51N-linked (GlcNAc...) (Potential).
581N-linked (GlcNAc...) (Potential).
680N-linked (GlcNAc...) (Potential).
949N-linked (GlcNAc...) (Potential).
983N-linked (GlcNAc...) (Potential).
1009N-linked (GlcNAc...) (Potential).
1028N-linked (GlcNAc...) (Potential).
1158N-linked (GlcNAc...) (Potential).
1178N-linked (GlcNAc...) (Potential).
1194N-linked (GlcNAc...) (Potential).
1393N-linked (GlcNAc...) (Potential).
1566N-linked (GlcNAc...) (Potential).
1638N-linked (GlcNAc...) (Potential).
1786N-linked (GlcNAc...) (Potential).
1799N-linked (GlcNAc...) (Potential).
1876N-linked (GlcNAc...) (Potential).
2012N-linked (GlcNAc...) (Potential).
2185N-linked (GlcNAc...) (Potential).
2190N-linked (GlcNAc...) (Potential).
2223N-linked (GlcNAc...) (Potential).
2394N-linked (GlcNAc...) (Potential).
2430N-linked (GlcNAc...) (Potential).
2731N-linked (GlcNAc...) (Potential).
2809N-linked (GlcNAc...) (Potential).
2878N-linked (GlcNAc...) (Potential).
2937N-linked (GlcNAc...) (Potential).
2971N-linked (GlcNAc...) (Potential).
3001N-linked (GlcNAc...) (Potential).
3055N-linked (GlcNAc...) (Potential).
3143N-linked (GlcNAc...) (Potential).
3175N-linked (GlcNAc...) (Potential).
3307N-linked (GlcNAc...) (Potential).
3407N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
25N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
34N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
51N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
581N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
680N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
949N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
983N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1009N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1028N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1158N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1178N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1194N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1393N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1566N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1638N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1786N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1799N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1876N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2012N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2185N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2190N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2223N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2394N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2430N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2731N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2809N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2878N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2937N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2971N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3001N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3055N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3143N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3175N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3307N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3407N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
25N-linkedHMM predict
34N-linkedHMM predict
39Phosphoserine(CDC2)HMM predict
51N-linkedHMM predict
215Phosphoserine(CDC2)HMM predict
215Phosphoserine(CDK)HMM predict
325Phosphoserine(ATM)HMM predict
325Phosphoserine(IKK)HMM predict
329Phosphoserine(IKK)HMM predict
337Phosphoserine(ATM)HMM predict
513Phosphotyrosine(EGFR)HMM predict
581N-linkedHMM predict
584Phosphoserine(CDC2)HMM predict
584Phosphoserine(CDK)HMM predict
598SulfotyrosineHMM predict
655O-linkedHMM predict
656Phosphoserine(IKK)HMM predict
659Phosphoserine(CK1)HMM predict
680N-linkedHMM predict
900Phosphoserine(ATM)HMM predict
937Phosphoserine(CDC2)HMM predict
937Phosphoserine(CDK)HMM predict
949N-linkedHMM predict
977Phosphotyrosine(INSR)HMM predict
983N-linkedHMM predict
1009N-linkedHMM predict
1028N-linkedHMM predict
1088Phosphoserine(IKK)HMM predict
1089Phosphoserine(CDC2)HMM predict
1178N-linkedHMM predict
1181Phosphoserine(CK1)HMM predict
1182Phosphoserine(CK1)HMM predict
1378O-linkedHMM predict
1383O-linkedHMM predict
1384Phosphoserine(IKK)HMM predict
1393N-linkedHMM predict
1518Phosphoserine(ATM)HMM predict
1526Phosphoserine(PKA)HMM predict
1540Phosphoserine(CAMK2)HMM predict
1566N-linkedHMM predict
1638N-linkedHMM predict
1639Phosphotyrosine(INSR)HMM predict
1679Phosphoserine(ATM)HMM predict
1686Phosphoserine(CK1)HMM predict
1689Phosphoserine(CK1)HMM predict
1689Phosphoserine(ATM)HMM predict
1731O-linkedHMM predict
1733O-linkedHMM predict
1737Phosphoserine(IKK)HMM predict
1752Phosphoserine(ATM)HMM predict
1786N-linkedHMM predict
1799N-linkedHMM predict
1809Phosphoserine(CDC2)HMM predict
1809Phosphoserine(CDK)HMM predict
1867O-linkedHMM predict
1869O-linkedHMM predict
1876N-linkedHMM predict
1880N-linkedHMM predict
1921Phosphothreonine(PKC)HMM predict
1981Phosphoserine(CDC2)HMM predict
2012N-linkedHMM predict
2018N-linkedHMM predict
2021Phosphotyrosine(INSR)HMM predict
2021SulfotyrosineHMM predict
2046Phosphoserine(IKK)HMM predict
2049Phosphoserine(CK1)HMM predict
2063Phosphoserine(CK1)HMM predict
2063Phosphoserine(ATM)HMM predict
2098N-linkedHMM predict
2099Phosphoserine(PKA)HMM predict
2099Phosphoserine(PKB)HMM predict
2185N-linkedHMM predict
2190N-linkedHMM predict
2195O-linkedHMM predict
2200Phosphoserine(CDC2)HMM predict
2203Phosphoserine(IKK)HMM predict
2245Phosphothreonine(PKC)HMM predict
2370Phosphoserine(ATM)HMM predict
2408Phosphotyrosine(EGFR)HMM predict
2408Phosphotyrosine(SRC)HMM predict
2408Phosphotyrosine(Syk)HMM predict
2430N-linkedHMM predict
2438O-linkedHMM predict
2439O-linkedHMM predict
2600Phosphoserine(CK1)HMM predict
2731N-linkedHMM predict
2779O-linkedHMM predict
2779Phosphoserine(ATM)HMM predict
2783O-linkedHMM predict
2783Phosphoserine(ATM)HMM predict
2790Phosphotyrosine(INSR)HMM predict
2809N-linkedHMM predict
2828O-linkedHMM predict
2878N-linkedHMM predict
2884Phosphoserine(IKK)HMM predict
2898Phosphothreonine(MAPK)HMM predict
2937N-linkedHMM predict
2970Phosphotyrosine(EGFR)HMM predict
2971N-linkedHMM predict
3001N-linkedHMM predict
3036Phosphotyrosine(INSR)HMM predict
3055N-linkedHMM predict
3078MethylarginineHMM predict
3087Phosphoserine(PKB)HMM predict
3122O-linkedHMM predict
3148Phosphotyrosine(Jak)HMM predict
3175N-linkedHMM predict
3195Phosphothreonine(MAPK)HMM predict
3257Phosphothreonine(PKC)HMM predict
3307N-linkedHMM predict
3395Phosphoserine(ATM)HMM predict
3407N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_052896
  • Location:chr1 33752195-34404029
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K27me3 colorectalcancer 34405758 34406217 459 1958
H3K27me3 colorectalcancer 34408384 34409793 1409 5059
Oct1 H2O2-HelaGSE14283 34408811 34408838 27 4795
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER Fulvestrant-MCF7GSE14664 33746739 33746820 81 5416
Oct1 HelaGSE14283 33749092 33749122 30 3089
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 33851132 33851355 223 0
CTCF CD4GSE12889 33871192 33871516 324 0
CTCF CD4SISSRdata 33851132 33851355 223 0
CTCF CD4SISSRdata 33871192 33871516 324 0
CTCF HelaGSE12889 33851172 33851444 272 0
CTCF HelaGSE12889 33863150 33863543 393 0
CTCF HelaGSE12889 33892586 33892733 147 0
CTCF HelaGSE12889 34252284 34252393 109 0
CTCF JurkatGSE12889 33863189 33863528 339 0
CTCF JurkatGSE12889 33879392 33879554 162 0
CTCF JurkatGSE12889 34252238 34252440 202 0
CTCF G2GSE9613 33757973 33758175 202 0
CTCF G2GSE9613 33844215 33844422 207 0
CTCF G2GSE9613 33851118 33851422 304 0
CTCF G2GSE9613 33862663 33862873 210 0
CTCF G2GSE9613 33863173 33863703 530 0
CTCF G2GSE9613 33871352 33872074 722 0
CTCF G2GSE9613 33872886 33873466 580 0
CTCF G2GSE9613 33901090 33901240 150 0
CTCF G2GSE9613 33928254 33928467 213 0
CTCF G2GSE9613 33982274 33982487 213 0
CTCF G2GSE9613 34187448 34187646 198 0
CTCF G2GSE9613 34195956 34196312 356 0
CTCF G2GSE9613 34220803 34221190 387 0
CTCF G2GSE9613 34224036 34224223 187 0
CTCF G2GSE9613 34234444 34234861 417 0
CTCF G2GSE9613 34251478 34251696 218 0
CTCF G2GSE9613 34252154 34252482 328 0
CTCF G2GSE9613 34259444 34259648 204 0
CTCF G2GSE9613 34260649 34260943 294 0
CTCF G2GSE9613 34317113 34317259 146 0
CTCF G2GSE9613 34322144 34322492 348 0
CTCF G2GSE9613 34324728 34324892 164 0
CTCF G2GSE9613 34398187 34398439 252 0
CTCF G2GSE9613 34402127 34402405 278 0
ER Breast-CancerGSE22609 33898385 33899128 743 0
ER E2-MCF7GSE14664 33852849 33852943 94 0
ER E2-MCF7GSE14664 34109612 34109674 62 0
ER E2-MCF7GSE14664 34378297 34378330 33 0
ER Fulvestrant-MCF7GSE14664 34314594 34314636 42 0
ER Fulvestrant-MCF7GSE14664 34314754 34314789 35 0
ER MCF7GSE19013 33898590 33899090 500 0
FOXA1 MCF7GSE15244 33898261 33899263 1002 0
FOXA1 MCF7GSE15244 34182370 34182570 200 0
Fos K562GSE19551 33780245 33780529 284 0
Fos K562GSE19551 34156495 34156976 481 0
H3K27me3 colorectalcancer 34399201 34400023 822 0
H3K27me3 colorectalcancer 34400457 34400721 264 0
H3K27me3 colorectalcancer 34401095 34401466 371 0
H3K27me3 colorectalcancer 34403553 34404018 465 0
KLF4 hESGSE17917 33865012 33865462 450 0
Myc hESGSE17917 34258588 34258811 223 0
NRSF JurkatGSE13047 34272178 34272563 385 0
NRSF JurkatSISSRdata 34272307 34272516 209 0
NRSF-mono JurkatQuESTdata 34118479 34118795 316 0
NRSF-mono JurkatQuESTdata 34272206 34272556 350 0
NRSF-poly JurkatQuESTdata 34272252 34272503 251 0
Nanog hESGSE18292 34106101 34106547 446 0
Oct1 H2O2-HelaGSE14283 33799054 33799085 31 0
Oct1 H2O2-HelaGSE14283 33832148 33832176 28 0
Oct1 H2O2-HelaGSE14283 33935554 33935592 38 0
Oct1 H2O2-HelaGSE14283 33939410 33939438 28 0
Oct1 H2O2-HelaGSE14283 34252893 34252921 28 0
Oct1 H2O2-HelaGSE14283 34331612 34331642 30 0
Oct1 H2O2-HelaGSE14283 34346379 34346430 51 0
Oct1 H2O2-HelaGSE14283 34358371 34358398 27 0
Oct1 H2O2-HelaGSE14283 34381610 34381679 69 0
Oct1 H2O2-HelaGSE14283 34387126 34387154 28 0
Oct1 HelaGSE14283 33761629 33761698 69 0
Oct1 HelaGSE14283 33761950 33761986 36 0
Oct1 HelaGSE14283 33765683 33765712 29 0
Oct1 HelaGSE14283 33799050 33799091 41 0
Oct1 HelaGSE14283 33820034 33820070 36 0
Oct1 HelaGSE14283 33859948 33859993 45 0
Oct1 HelaGSE14283 33900189 33900228 39 0
Oct1 HelaGSE14283 33923770 33923803 33 0
Oct1 HelaGSE14283 33935554 33935593 39 0
Oct1 HelaGSE14283 34008774 34008805 31 0
Oct1 HelaGSE14283 34021967 34021995 28 0
Oct1 HelaGSE14283 34073383 34073416 33 0
Oct1 HelaGSE14283 34190259 34190299 40 0
Oct1 HelaGSE14283 34252888 34252922 34 0
Oct1 HelaGSE14283 34305544 34305579 35 0
Oct1 HelaGSE14283 34314595 34314632 37 0
Oct1 HelaGSE14283 34314757 34314790 33 0
Oct1 HelaGSE14283 34331613 34331642 29 0
Oct1 HelaGSE14283 34346379 34346417 38 0
Oct1 HelaGSE14283 34349570 34349605 35 0
Oct1 HelaGSE14283 34357775 34357825 50 0
Oct1 HelaGSE14283 34358370 34358400 30 0
Oct1 HelaGSE14283 34381572 34381680 108 0
Pol3 GM12878GSE19551 33984120 33984393 273 0
RNAII Tamoxifen-MCF7GSE14664 34339590 34339634 44 0
RNAII Tamoxifen-MCF7GSE14664 34399733 34399772 39 0
Rb QuiescentGSE19898 33871629 33871753 124 0
SRF GMOGSE8489 33840944 33841158 214 0
SRF HepG2GSE8489 34118311 34118632 321 0
Sox2 hESGSE18292 33873971 33874175 204 0
TAF k562GSE8489 34032326 34033060 734 0
TFAP2C MCF7GSE21234 33796284 33796630 346 0
TFAP2C MCF7GSE21234 33951234 33951769 535 0
TFAP2C MCF7GSE21234 34346602 34346837 235 0
c MYCMCF7 34032866 34033474 608 0
hScc1 BcellGSE12603 33757937 33758211 274 0
hScc1 BcellGSE12603 33762926 33763146 220 0
hScc1 BcellGSE12603 33871352 33871637 285 0
hScc1 BcellGSE12603 33874400 33875004 604 0
hScc1 BcellGSE12603 33928129 33928435 306 0
hScc1 BcellGSE12603 34049255 34049578 323 0
hScc1 BcellGSE12603 34084915 34085246 331 0
hScc1 BcellGSE12603 34122654 34123009 355 0
hScc1 BcellGSE12603 34197562 34197953 391 0
hScc1 BcellGSE12603 34212958 34213206 248 0
hScc1 BcellGSE12603 34252081 34252518 437 0
hScc1 BcellGSE12603 34299094 34299487 393 0
hScc1 BcellGSE12603 34365901 34366377 476 0
hScc1 BcellGSE12603 34383592 34384154 562 0
hScc1 BcellGSE12603 34401095 34402550 1455 0
hScc1 BcellGSE12603 34403197 34403381 184 0
hScc1 CdLSGSE12603 33851118 33851483 365 0
hScc1 CdLSGSE12603 33871352 33871601 249 0
hScc1 CdLSGSE12603 33895717 33895929 212 0
hScc1 G2GSE9613 33851118 33851422 304 0
hScc1 G2GSE9613 33871352 33871881 529 0
p130 QuiescentGSE19898 33851177 33851411 234 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
552 mRNA LOC127540 chr1 33995168 33999484 4316 mRNA CSMD2 chr1 33648701 34300536 Non-exonic Bidirectional (NOB) 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