AutismKB 2.0

Annotation Detail for OBSCN


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Basic Information Top
Gene Symbol:OBSCN ( ARHGEF30,DKFZp666E245,FLJ14124,KIAA1556,KIAA1639,MGC120409,MGC120410,MGC120411,MGC120412,MGC138590,UNC89 )
Gene Full Name: obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
Band: 1q42.13
Quick LinksEntrez ID:84033; OMIM: 608616; Uniprot ID:OBSCN_HUMAN; ENSEMBL ID: ENSG00000154358; HGNC ID: 15719
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
6038Phosphothreonine.
6040Phosphothreonine.
7671Phosphothreonine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
36N-linkedHMM predict
38Phosphothreonine(MAPK)HMM predict
80Phosphotyrosine(INSR)HMM predict
136Phosphoserine(CDC2)HMM predict
182Phosphotyrosine(INSR)HMM predict
210O-linkedHMM predict
215O-linkedHMM predict
238O-linkedHMM predict
238O-linkedHMM predict
238Phosphoserine(MAPK)HMM predict
238Phosphoserine(ATM)HMM predict
238Phosphoserine(IKK)HMM predict
238Phosphoserine(MAPK)HMM predict
241O-linkedHMM predict
241O-linkedHMM predict
309Phosphotyrosine(INSR)HMM predict
385Phosphothreonine(PKC)HMM predict
390Phosphothreonine(PKA)HMM predict
390Phosphothreonine(PKC)HMM predict
393N-linkedHMM predict
402Phosphotyrosine(Jak)HMM predict
412Phosphothreonine(PKC)HMM predict
600Phosphotyrosine(Syk)HMM predict
617Phosphothreonine(CDK)HMM predict
667Phosphothreonine(PKA)HMM predict
747Phosphoserine(CDC2)HMM predict
747Phosphoserine(CDK)HMM predict
747Phosphoserine(ATM)HMM predict
909Phosphothreonine(PKC)HMM predict
960Phosphotyrosine(INSR)HMM predict
1001Phosphothreonine(PKC)HMM predict
1052Phosphotyrosine(INSR)HMM predict
1144Phosphotyrosine(INSR)HMM predict
1236Phosphotyrosine(INSR)HMM predict
1277Phosphothreonine(PKC)HMM predict
1302Phosphoserine(CK1)HMM predict
1328Phosphotyrosine(INSR)HMM predict
1369Phosphothreonine(PKC)HMM predict
1420Phosphotyrosine(INSR)HMM predict
1430PhosphoserineHMM predict
1461Phosphothreonine(PKC)HMM predict
1483Phosphoserine(PKA)HMM predict
1645Phosphothreonine(PKC)HMM predict
1670Phosphoserine(CK1)HMM predict
1696Phosphotyrosine(INSR)HMM predict
1741O-linkedHMM predict
1744O-linkedHMM predict
1744Phosphothreonine(MAPK)HMM predict
1746O-linkedHMM predict
1746O-linkedHMM predict
1769Phosphoserine(ATM)HMM predict
1878Phosphotyrosine(INSR)HMM predict
1878Phosphotyrosine(Jak)HMM predict
1923Phosphoserine(CDC2)HMM predict
1954Phosphoserine(IKK)HMM predict
2004Phosphoserine(CK1)HMM predict
2004Phosphoserine(CK2)HMM predict
2023N-linkedHMM predict
2178Phosphothreonine(PKC)HMM predict
2184Phosphothreonine(PKA)HMM predict
2255Phosphotyrosine(INSR)HMM predict
2359Phosphotyrosine(INSR)HMM predict
2509Phosphoserine(CDC2)HMM predict
2509Phosphoserine(MAPK)HMM predict
2509Phosphoserine(CDK)HMM predict
2509Phosphoserine(MAPK)HMM predict
2582Phosphoserine(CK2)HMM predict
2591Phosphoserine(IKK)HMM predict
2599N-linkedHMM predict
2613Phosphothreonine(PKA)HMM predict
2630Phosphoserine(PKG)HMM predict
2631O-linkedHMM predict
2663Phosphothreonine(PKA)HMM predict
2689Phosphoserine(ATM)HMM predict
2765Phosphoserine(ATM)HMM predict
2802Phosphoserine(CK2)HMM predict
2815Phosphothreonine(PKC)HMM predict
2896Phosphotyrosine(INSR)HMM predict
2905Phosphoserine(IKK)HMM predict
2945Phosphothreonine(PKC)HMM predict
2985Phosphotyrosine(INSR)HMM predict
3029Phosphoserine(PKG)HMM predict
3033Phosphotyrosine(SRC)HMM predict
3033Phosphotyrosine(Syk)HMM predict
3165Phosphotyrosine(INSR)HMM predict
3203Phosphothreonine(PKC)HMM predict
3264O-linkedHMM predict
3264O-linkedHMM predict
3266O-linkedHMM predict
3268O-linkedHMM predict
3270O-linkedHMM predict
3292Phosphothreonine(PKC)HMM predict
3309Phosphoserine(PKA)HMM predict
3311Phosphothreonine(PKC)HMM predict
3380Phosphothreonine(PKC)HMM predict
3444O-linkedHMM predict
3444Phosphothreonine(PKC)HMM predict
3573Phosphoserine(PKA)HMM predict
3575Phosphothreonine(PKC)HMM predict
3620Phosphothreonine(PKC)HMM predict
3694Phosphotyrosine(Jak)HMM predict
3703Phosphothreonine(PKA)HMM predict
3796Phosphothreonine(PKC)HMM predict
3837Phosphoserine(PKA)HMM predict
3884Phosphothreonine(PKC)HMM predict
3919Phosphothreonine(PKC)HMM predict
3968O-linkedHMM predict
3969O-linkedHMM predict
3969O-linkedHMM predict
3969Phosphoserine(IKK)HMM predict
3971O-linkedHMM predict
3973O-linkedHMM predict
3975O-linkedHMM predict
4057Phosphoserine(CAMK2)HMM predict
4076Phosphoserine(CAMK2)HMM predict
4119Phosphoserine(ATM)HMM predict
4216Phosphothreonine(PKC)HMM predict
4244Phosphothreonine(PKC)HMM predict
4341Phosphothreonine(PKC)HMM predict
4383Phosphoserine(CK2)HMM predict
4542Phosphoserine(IKK)HMM predict
4591Phosphothreonine(PKC)HMM predict
4628O-linkedHMM predict
4714Phosphoserine(CDC2)HMM predict
4725O-linkedHMM predict
4750Phosphoserine(PKC)HMM predict
4750Phosphoserine(PKG)HMM predict
4754Phosphothreonine(PKC)HMM predict
4768Phosphoserine(ATM)HMM predict
4786Phosphotyrosine(Syk)HMM predict
4787Phosphoserine(CK2)HMM predict
4804Phosphoserine(CK2)HMM predict
4813PhosphothreonineHMM predict
4829O-linkedHMM predict
4829Phosphoserine(CDC2)HMM predict
4842O-linkedHMM predict
4993Phosphoserine(CK2)HMM predict
4993Phosphoserine(IKK)HMM predict
4997Phosphoserine(CK1)HMM predict
4998Phosphoserine(CK1)HMM predict
4999Phosphoserine(CK1)HMM predict
5022Phosphoserine(CDC2)HMM predict
5022Phosphoserine(IKK)HMM predict
5027PhosphoserineHMM predict
5034Phosphoserine(CK2)HMM predict
5050Phosphothreonine(PKC)HMM predict
5118O-linkedHMM predict
5156Phosphoserine(ATM)HMM predict
5172Phosphotyrosine(INSR)HMM predict
5172SulfotyrosineHMM predict
5223Phosphotyrosine(INSR)HMM predict
5223SulfotyrosineHMM predict
5241Phosphotyrosine(Jak)HMM predict
5328PhosphoserineHMM predict
5401Phosphothreonine(PKC)HMM predict
5420Phosphothreonine(MAPK)HMM predict
5423Phosphotyrosine(INSR)HMM predict
5424O-linkedHMM predict
5427O-linkedHMM predict
5447Phosphotyrosine(INSR)HMM predict
5563PhosphoserineHMM predict
5567Phosphoserine(CK1)HMM predict
5567Phosphoserine(IKK)HMM predict
5569Phosphothreonine(MAPK)HMM predict
5573Phosphoserine(CDK)HMM predict
5573PhosphoserineHMM predict
5579O-linkedHMM predict
5582Phosphoserine(CK1)HMM predict
5583O-linkedHMM predict
5590Phosphoserine(CK1)HMM predict
5590Phosphoserine(CK2)HMM predict
5592Phosphoserine(CK1)HMM predict
5592Phosphoserine(CK2)HMM predict
5628Phosphotyrosine(EGFR)HMM predict
5628Phosphotyrosine(SRC)HMM predict
5647Phosphothreonine(PKA)HMM predict
5650Phosphoserine(CDC2)HMM predict
5650Phosphoserine(CDK)HMM predict
5650PhosphoserineHMM predict
5652O-linkedHMM predict
5686Phosphoserine(CK2)HMM predict
5690Phosphotyrosine(Syk)HMM predict
5696Phosphoserine(CAMK2)HMM predict
5703Phosphoserine(CK1)HMM predict
5763Phosphothreonine(CK2)HMM predict
5781Phosphotyrosine(Syk)HMM predict
5793O-linkedHMM predict
5818O-linkedHMM predict
5818Phosphoserine(ATM)HMM predict
5864Phosphotyrosine(Jak)HMM predict
5864Phosphotyrosine(Syk)HMM predict
5938Phosphoserine(PKC)HMM predict
5938Phosphoserine(IKK)HMM predict
6038O-linkedHMM predict
6040O-linkedHMM predict
6040Phosphothreonine(CDC2)HMM predict
6085Phosphotyrosine(INSR)HMM predict
6130O-linkedHMM predict
6156Phosphothreonine(PKC)HMM predict
6247O-linkedHMM predict
6269O-linkedHMM predict
6269Phosphoserine(ATM)HMM predict
6276O-linkedHMM predict
6277O-linkedHMM predict
6404Phosphoserine(PKG)HMM predict
6546Phosphoserine(CK1)HMM predict
6613N-linkedHMM predict
6622Phosphoserine(ATM)HMM predict
6624Phosphotyrosine(INSR)HMM predict
6626Phosphoserine(CDC2)HMM predict
6641Phosphoserine(CK2)HMM predict
6661Phosphoserine(CDC2)HMM predict
6661Phosphoserine(CDK)HMM predict
6681Phosphoserine(PKG)HMM predict
6681Phosphoserine(CAMK2)HMM predict
6681Phosphoserine(IKK)HMM predict
6789O-linkedHMM predict
6796Phosphoserine(CK1)HMM predict
6796Phosphoserine(ATM)HMM predict
6808Phosphoserine(PKA)HMM predict
6808Phosphoserine(PKG)HMM predict
6808Phosphoserine(IKK)HMM predict
6808Phosphoserine(PKB)HMM predict
6812O-linkedHMM predict
6812Phosphoserine(CDC2)HMM predict
6812Phosphoserine(ATM)HMM predict
6812PhosphoserineHMM predict
6815Phosphothreonine(CDK)HMM predict
6842Phosphoserine(CK1)HMM predict
6843O-linkedHMM predict
6851O-linkedHMM predict
6851Phosphoserine(CDC2)HMM predict
6851Phosphoserine(MAPK)HMM predict
6851Phosphoserine(CDK)HMM predict
6881Phosphoserine(ATM)HMM predict
6968Phosphoserine(ATM)HMM predict
6970O-linkedHMM predict
6970Phosphoserine(CK1)HMM predict
6971O-linkedHMM predict
6971Phosphothreonine(CDC2)HMM predict
6971Phosphothreonine(MAPK)HMM predict
6971Phosphothreonine(CDK)HMM predict
6976O-linkedHMM predict
6987Phosphoserine(PKA)HMM predict
6987Phosphoserine(PKB)HMM predict
6987PhosphoserineHMM predict
7009O-linkedHMM predict
7023Phosphoserine(CDC2)HMM predict
7023Phosphoserine(MAPK)HMM predict
7023Phosphoserine(IKK)HMM predict
7026Phosphoserine(IKK)HMM predict
7048Phosphoserine(ATM)HMM predict
7060O-linkedHMM predict
7116O-linkedHMM predict
7116Phosphoserine(CDC2)HMM predict
7121Phosphoserine(IKK)HMM predict
7124O-linkedHMM predict
7126Phosphoserine(ATM)HMM predict
7126Phosphoserine(IKK)HMM predict
7136Phosphoserine(IKK)HMM predict
7159Phosphoserine(CK1)HMM predict
7159Phosphoserine(ATM)HMM predict
7185Phosphotyrosine(INSR)HMM predict
7220Phosphoserine(CK2)HMM predict
7220PhosphoserineHMM predict
7232Phosphoserine(PKG)HMM predict
7232Phosphoserine(CK1)HMM predict
7232Phosphoserine(CK2)HMM predict
7232Phosphoserine(ATM)HMM predict
7234Phosphoserine(CK1)HMM predict
7250O-linkedHMM predict
7262Phosphothreonine(PKC)HMM predict
7264O-linkedHMM predict
7264O-linkedHMM predict
7265O-linkedHMM predict
7265Phosphoserine(CDC2)HMM predict
7269O-linkedHMM predict
7338Phosphoserine(MAPK)HMM predict
7391Phosphoserine(CDC2)HMM predict
7391Phosphoserine(CDK)HMM predict
7470Phosphoserine(CK1)HMM predict
7560O-linkedHMM predict
7630Phosphoserine(IKK)HMM predict
7637Phosphotyrosine(Jak)HMM predict
7639Phosphoserine(CDC2)HMM predict
7654Phosphoserine(CAMK2)HMM predict
7658Phosphoserine(CK1)HMM predict
7658Phosphoserine(ATM)HMM predict
7817Phosphoserine(ATM)HMM predict
7830Phosphotyrosine(Syk)HMM predict
7932O-linkedHMM predict
7965AlanineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_052843
  • Location:chr1 226462483-226615572
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 226461869 226462316 447 391
hScc1 BcellGSE12603 226460678 226461121 443 1584
hScc1 BcellGSE12603 226461659 226462354 695 477
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 226619061 226619720 659 3818
CTCF G2GSE9613 226620517 226620724 207 5048
CTCF G2GSE9613 226624441 226624651 210 8974
CTCF G2GSE9613 226626476 226626919 443 11125
CTCF G2GSE9613 226627985 226628565 580 12703
CTCF G2GSE9613 226629031 226629269 238 13578
Gata2 K562GSE18868 226621799 226624104 2305 7379
TFAP2C MCF7GSE21234 226625158 226626248 1090 10131
hScc1 BcellGSE12603 226619175 226619514 339 3772
hScc1 BcellGSE12603 226621601 226622516 915 6486
hScc1 BcellGSE12603 226625469 226626706 1237 10515
hScc1 BcellGSE12603 226627086 226627423 337 11682
hScc1 BcellGSE12603 226627832 226628565 733 12626
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 226464132 226465007 875 0
CTCF CD4GSE12889 226467784 226468163 379 0
CTCF CD4GSE12889 226595231 226595405 174 0
CTCF CD4SISSRdata 226467784 226468163 379 0
CTCF CD4SISSRdata 226595231 226595405 174 0
CTCF G2GSE9613 226466036 226467372 1336 0
CTCF G2GSE9613 226467699 226468965 1266 0
CTCF G2GSE9613 226470006 226470249 243 0
CTCF G2GSE9613 226495457 226495882 425 0
CTCF G2GSE9613 226504250 226504498 248 0
CTCF G2GSE9613 226510704 226511184 480 0
CTCF G2GSE9613 226517913 226518502 589 0
CTCF G2GSE9613 226521611 226521926 315 0
CTCF G2GSE9613 226528076 226528439 363 0
CTCF G2GSE9613 226528898 226529252 354 0
CTCF G2GSE9613 226537120 226537814 694 0
CTCF G2GSE9613 226546109 226546392 283 0
CTCF G2GSE9613 226552338 226552575 237 0
CTCF G2GSE9613 226560607 226560892 285 0
CTCF G2GSE9613 226561689 226562332 643 0
CTCF G2GSE9613 226563516 226563769 253 0
CTCF G2GSE9613 226568799 226570444 1645 0
CTCF G2GSE9613 226588729 226589056 327 0
CTCF G2GSE9613 226591531 226591779 248 0
CTCF G2GSE9613 226592716 226593211 495 0
CTCF G2GSE9613 226594921 226595701 780 0
CTCF G2GSE9613 226596446 226596575 129 0
CTCF G2GSE9613 226608660 226608984 324 0
CTCF G2GSE9613 226613775 226614117 342 0
ER Breast-CancerGSE22609 226612864 226613328 464 0
Gata2 K562GSE18868 226544632 226545256 624 0
P300 T0-glioblastomaGSE21026 226464297 226464972 675 0
P300 T30-glioblastomaGSE21026 226463954 226465117 1163 0
P300 T30-glioblastomaGSE21026 226481645 226483702 2057 0
P300 T30-glioblastomaGSE21026 226598900 226599521 621 0
Rb SenescentGSE19898 226467598 226467985 387 0
Rb shRbSenescenceGSE19898 226574688 226574894 206 0
hScc1 BcellGSE12603 226463463 226463788 325 0
hScc1 BcellGSE12603 226465755 226468008 2253 0
hScc1 BcellGSE12603 226470249 226470467 218 0
hScc1 BcellGSE12603 226518011 226518469 458 0
hScc1 BcellGSE12603 226531852 226532234 382 0
hScc1 BcellGSE12603 226534069 226534770 701 0
hScc1 BcellGSE12603 226541170 226542187 1017 0
hScc1 BcellGSE12603 226560643 226561001 358 0
hScc1 BcellGSE12603 226570030 226570520 490 0
hScc1 BcellGSE12603 226572253 226572677 424 0
hScc1 BcellGSE12603 226575758 226576645 887 0
hScc1 BcellGSE12603 226592781 226593430 649 0
hScc1 BcellGSE12603 226593972 226594700 728 0
hScc1 BcellGSE12603 226608046 226608696 650 0
hScc1 BcellGSE12603 226611532 226611822 290 0
hScc1 CdLSGSE12603 226467258 226468008 750 0
p130 QuiescentGSE19898 226467490 226467680 190 0
p130 QuiescentGSE19898 226542219 226542374 155 0
p130 shRbSenescentGSE19898 226467604 226468027 423 0
p130 shRbSenescentGSE19898 226468234 226468540 306 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
2460 mRNA OBSCN chr1 224702595 224855685 7008 EST chr1 224790426 224797434 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


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