AutismKB 2.0

Annotation Detail for ESPL1


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Basic Information Top
Gene Symbol:ESPL1 ( ESP1,FLJ46492,KIAA0165 )
Gene Full Name: extra spindle pole bodies homolog 1 (S. cerevisiae)
Band: 12q13.13
Quick LinksEntrez ID:9700; OMIM: 604143; Uniprot ID:ESPL1_HUMAN; ENSEMBL ID: ENSG00000135476; HGNC ID: 16856
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1126Phosphoserine.
1396Phosphoserine.
1399Phosphoserine.
1508Phosphoserine.
Location(AA) Modifications Resource
1073PhosphoserinePhospho.ELM 6.0
1126Phosphoserine.Swiss-Prot 53.0
1126Phosphoserine (CDK1;MAPK1)Phospho.ELM 6.0
1305PhosphoserinePhospho.ELM 6.0
1346PhosphothreoninePhospho.ELM 6.0
1501PhosphoserinePhospho.ELM 6.0
1508PhosphoserinePhospho.ELM 6.0
1508Phosphoserine.Swiss-Prot 53.0
1545PhosphoserinePhospho.ELM 6.0
1552PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
15Phosphoserine(ATM)HMM predict
140Phosphotyrosine(Syk)HMM predict
244Phosphoserine(CDK)HMM predict
244Phosphoserine(CDC2)HMM predict
330Phosphoserine(CDK)HMM predict
351Phosphothreonine(PKC)HMM predict
392Phosphoserine(IKK)HMM predict
495Phosphotyrosine(EGFR)HMM predict
538Phosphoserine(ATM)HMM predict
614Phosphoserine(ATM)HMM predict
719SulfotyrosineHMM predict
853Phosphotyrosine(Jak)HMM predict
918N-linkedHMM predict
1003Phosphoserine(CAMK2)HMM predict
1126Phosphoserine(CDC2)HMM predict
1126PhosphoserineHMM predict
1126Phosphoserine(CDK)HMM predict
1153Phosphoserine(CDK)HMM predict
1153Phosphoserine(CDC2)HMM predict
1153Phosphoserine(IKK)HMM predict
1240N-linkedHMM predict
1305Phosphoserine(IKK)HMM predict
1308Phosphoserine(CK1)HMM predict
1329Phosphoserine(IKK)HMM predict
1331N-linkedHMM predict
1332N-linkedHMM predict
1346Phosphothreonine(CDC2)HMM predict
1389Phosphothreonine(PKC)HMM predict
1394N-linkedHMM predict
1399Phosphoserine(CK2)HMM predict
1420Phosphothreonine(PKA)HMM predict
1423MethylarginineHMM predict
1425MethylarginineHMM predict
1444O-linkedHMM predict
1475Phosphoserine(CK2)HMM predict
1519O-linkedHMM predict
1576Phosphoserine(IKK)HMM predict
1621O-linkedHMM predict
1625Phosphoserine(PKA)HMM predict
1767N-linkedHMM predict
1768Phosphoserine(CK2)HMM predict
1797Phosphoserine(IKK)HMM predict
1940Phosphoserine(ATM)HMM predict
1957N-linkedHMM predict
1959Phosphoserine(CK1)HMM predict
1960Phosphoserine(CK1)HMM predict
1968N-linkedHMM predict
2104Phosphotyrosine(Jak)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_012291
  • Location:chr12 51948817-51973696
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 51948009 51948901 892 363
CTCF CD4GSE12889 51948089 51948277 188 635
CTCF CD4SISSRdata 51948089 51948277 188 635
CTCF JurkatGSE12889 51948093 51948371 278 586
CTCF G2GSE9613 51948030 51949050 1020 278
E2F4 G0GSE7516 51948030 51948978 948 314
ETS1 JurkatGSE17954 51947756 51949065 1309 407
Fos K562GSE19551 51948037 51948675 638 462
H3ac HepG2E 51948472 51949091 619 36
KLF4 hESGSE17917 51948076 51948255 179 652
LIN54 G0GSE7516 51948030 51948726 696 440
LIN9 G0GSE7516 51948030 51949165 1135 220
LIN9 SGSE7516 51947394 51949091 1697 575
P300 T0-glioblastomaGSE21026 51947988 51948711 723 468
P300 T30-glioblastomaGSE21026 51947752 51949198 1446 343
hScc1 BcellGSE12603 51948030 51948435 405 585
hScc1 CdLSGSE12603 51948030 51948726 696 440
hScc1 G2GSE9613 51948030 51948908 878 349
p130 QuiescentGSE19898 51948137 51948863 726 318
p130 SenescentGSE19898 51947997 51949367 1370 136
p130 shRbQuiescentGSE19898 51948107 51948902 795 313
p130 shRbSenescentGSE19898 51948168 51948781 613 343
p130 G0GSE7516 51948030 51949421 1391 92
p130 SGSE7516 51947614 51948872 1258 575
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 51967833 51968138 305 0
CTCF CD4SISSRdata 51967833 51968138 305 0
CTCF G2GSE9613 51954841 51955030 189 0
CTCF G2GSE9613 51966187 51966395 208 0
CTCF G2GSE9613 51966682 51967091 409 0
CTCF G2GSE9613 51967723 51968505 782 0
CTCF G2GSE9613 51969993 51970385 392 0
CTCF G2GSE9613 51972209 51972507 298 0
FOXA1 MCF7GSE15244 51948030 51950773 2743 0
Oct1 HelaGSE14283 51964393 51964430 37 0
hScc1 BcellGSE12603 51967723 51968737 1014 0
hScc1 BcellGSE12603 51971671 51971917 246 0
hScc1 CdLSGSE12603 51967723 51968402 679 0
hScc1 G2GSE9613 51967723 51968437 714 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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