AutismKB 2.0

Annotation Detail for SPECC1L


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Basic Information Top
Gene Symbol:SPECC1L ( CYTSA,KIAA0376 )
Gene Full Name: sperm antigen with calponin homology and coiled-coil domains 1-like
Band: 22q11.23
Quick LinksEntrez ID:23384; OMIM: NA; Uniprot ID:CYTSA_HUMAN; ENSEMBL ID: ENSG00000100014; HGNC ID: 29022
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
54Phosphoserine (By similarity).
220Phosphoserine.
832Phosphoserine.
868Phosphoserine.
874Phosphothreonine.
881Phosphoserine.
887Phosphoserine (By similarity).
Location(AA) Modifications Resource
54Phosphoserine (By similarity).Swiss-Prot 53.0
220Phosphoserine.Swiss-Prot 53.0
220PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
10O-linkedHMM predict
15O-linkedHMM predict
18Phosphoserine(CK1)HMM predict
30N-linkedHMM predict
31Phosphoserine(CK1)HMM predict
32O-linkedHMM predict
33Phosphoserine(CK1)HMM predict
81O-linkedHMM predict
85O-linkedHMM predict
87O-linkedHMM predict
87O-linkedHMM predict
96N-linkedHMM predict
101Phosphoserine(PKG)HMM predict
102O-linkedHMM predict
104O-linkedHMM predict
106O-linkedHMM predict
108Phosphothreonine(PKC)HMM predict
111Phosphoserine(PKG)HMM predict
112O-linkedHMM predict
120Phosphoserine(CK1)HMM predict
122Phosphothreonine(PKC)HMM predict
220Phosphoserine(CK2)HMM predict
295Phosphoserine(CDC2)HMM predict
299Phosphothreonine(MAPK)HMM predict
317Phosphoserine(IKK)HMM predict
321Phosphoserine(IKK)HMM predict
321PhosphoserineHMM predict
327Phosphoserine(CK1)HMM predict
327Phosphoserine(ATM)HMM predict
347Phosphoserine(CK2)HMM predict
367Phosphoserine(CK1)HMM predict
368Phosphoserine(CK2)HMM predict
369Phosphoserine(CK1)HMM predict
384Phosphoserine(PKG)HMM predict
384PhosphoserineHMM predict
387N-linkedHMM predict
389O-linkedHMM predict
409Phosphoserine(CK2)HMM predict
410Phosphothreonine(CK2)HMM predict
411Phosphoserine(CK1)HMM predict
488Phosphotyrosine(INSR)HMM predict
495Phosphotyrosine(Syk)HMM predict
621Phosphothreonine(PKC)HMM predict
651Phosphotyrosine(EGFR)HMM predict
666N-linkedHMM predict
831Phosphoserine(CK1)HMM predict
831Phosphoserine(CK2)HMM predict
832Phosphoserine(PKA)HMM predict
832Phosphoserine(PKG)HMM predict
832Phosphoserine(CK1)HMM predict
832Phosphoserine(PKB)HMM predict
833Phosphothreonine(PKC)HMM predict
834O-linkedHMM predict
834O-linkedHMM predict
835O-linkedHMM predict
835O-linkedHMM predict
835Phosphoserine(CK1)HMM predict
835Phosphoserine(IKK)HMM predict
838O-linkedHMM predict
838Phosphothreonine(MAPK)HMM predict
840O-linkedHMM predict
840O-linkedHMM predict
852Phosphoserine(ATM)HMM predict
852Phosphoserine(IKK)HMM predict
865Phosphothreonine(MAPK)HMM predict
865Phosphothreonine(CDK)HMM predict
868O-linkedHMM predict
868Phosphoserine(CDC2)HMM predict
868Phosphoserine(MAPK)HMM predict
868Phosphoserine(CDK)HMM predict
868Phosphoserine(IKK)HMM predict
870Phosphoserine(CDC2)HMM predict
870Phosphoserine(CDK)HMM predict
874Phosphothreonine(MAPK)HMM predict
887Phosphoserine(IKK)HMM predict
894Phosphothreonine(PKC)HMM predict
924O-linkedHMM predict
928PhosphoserineHMM predict
956Phosphoserine(PKG)HMM predict
962Phosphoserine(CDC2)HMM predict
962Phosphoserine(MAPK)HMM predict
977O-linkedHMM predict
979Phosphoserine(CDC2)HMM predict
980O-linkedHMM predict
980Phosphoserine(CK1)HMM predict
981Phosphoserine(CDC2)HMM predict
981Phosphoserine(CDK)HMM predict
981Phosphoserine(ATM)HMM predict
981Phosphoserine(IKK)HMM predict
981PhosphoserineHMM predict
983O-linkedHMM predict
983O-linkedHMM predict
985O-linkedHMM predict
987O-linkedHMM predict
987Phosphothreonine(MAPK)HMM predict
987Phosphothreonine(CDK)HMM predict
1028Phosphotyrosine(INSR)HMM predict
1028Phosphotyrosine(Syk)HMM predict
1028PhosphotyrosineHMM predict
1035N-linkedHMM predict
1041N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_015330
  • Location:chr22 22996865-23143215
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 22985537 22985705 168 11245
CTCF CD4SISSRdata 22985537 22985705 168 11245
CTCF HelaGSE12889 22985574 22985723 149 11217
CTCF JurkatGSE12889 22985565 22985712 147 11227
CTCF G2GSE9613 22983931 22985946 2015 11927
CTCF G2GSE9613 22986488 22987090 602 10077
FOXA1 MCF7GSE15244 22985071 22985671 600 11495
Fos K562GSE19551 22988325 22988683 358 8362
PHF8 HeLaGSE20725 22996040 22997616 1576 38
RARA MCF7GSE15244 22984846 22985833 987 11526
RARG MCF7GSE15244 22984929 22985797 868 11503
Rb GrowingGSE19898 22996759 22996967 208 3
Rb SenescentGSE19898 22996623 22997019 396 45
TFAP2C MCF7GSE21234 22991691 22992090 399 4975
USF1 HepG2E 22987717 22991789 4072 7113
USF2 HepG2E 22989895 22991504 1609 6166
hScc1 BcellGSE12603 22984513 22985984 1471 11617
hScc1 BcellGSE12603 22996444 22997267 823 10
hScc1 CdLSGSE12603 22984929 22985984 1055 11409
hScc1 G2GSE9613 22984583 22986059 1476 11545
hScc1 G2GSE9613 22986488 22987383 895 9930
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 23149530 23150151 621 6625
hScc1 BcellGSE12603 23144002 23144865 863 1218
hScc1 BcellGSE12603 23149530 23150245 715 6672
hScc1 CdLSGSE12603 23149566 23150733 1167 6934
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 23128134 23129370 1236 0
CTCF G2GSE9613 23000611 23001280 669 0
CTCF G2GSE9613 23127897 23128253 356 0
ER MCF7GSE19013 23078099 23078585 486 0
FOXA1 MCF7GSE15244 23000723 23001316 593 0
FOXA1 MCF7GSE15244 23028423 23029695 1272 0
FOXA1 MCF7GSE15244 23086572 23087052 480 0
Fos K562GSE19551 23010597 23011122 525 0
FoxA1 MCF7MACSdata 23086797 23086970 173 0
H3K4me3 colorectalcancer 22997554 22998019 465 0
H3ac HepG2E 22997422 22998019 597 0
H3ac HepG2E 22998665 22999262 597 0
P300 T0-glioblastomaGSE21026 23041277 23042152 875 0
P300 T30-glioblastomaGSE21026 23014901 23016283 1382 0
P300 T30-glioblastomaGSE21026 23041216 23041933 717 0
P300 T30-glioblastomaGSE21026 23128151 23129475 1324 0
PHF8 293TGSE20725 22996271 22997642 1371 0
PHF8 Hs68minusFBSGSE20725 22996382 22997453 1071 0
PHF8 Hs68plusFBSGSE20725 22996233 22997819 1586 0
RARA MCF7GSE15244 23028607 23030483 1876 0
RARA MCF7GSE15244 23117466 23118644 1178 0
RARA MCF7GSE15244 23128214 23129457 1243 0
RARG MCF7GSE15244 23000723 23001352 629 0
RARG MCF7GSE15244 23028077 23029695 1618 0
Rb GrowingGSE19898 22997074 22997343 269 0
Rb SenescentGSE19898 22997068 22997315 247 0
STAT1 HeLaGSE12782 23117215 23119357 2142 0
STAT1 HeLaGSE12783 23117239 23119329 2090 0
TFAP2C MCF7GSE21234 23083433 23083829 396 0
hScc1 BcellGSE12603 23051102 23051464 362 0
hScc1 BcellGSE12603 23140077 23140404 327 0
hScc1 CdLSGSE12603 23050981 23051431 450 0
hScc1 G2GSE9613 23000611 23001280 669 0
p130 QuiescentGSE19898 22996764 22997019 255 0
p130 SenescentGSE19898 22996859 22997284 425 0
p63 keratinocytesGSE17611 23096414 23097104 690 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