AutismKB 2.0

Annotation Detail for TPCN1


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Basic Information Top
Gene Symbol:TPCN1 ( FLJ20612,KIAA1169,TPC1 )
Gene Full Name: two pore segment channel 1
Band: 12q24.13
Quick LinksEntrez ID:53373; OMIM: 609666; Uniprot ID:TPC1_HUMAN; ENSEMBL ID: ENSG00000186815; HGNC ID: 18182
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
599N-linked (GlcNAc...) (Potential).
611N-linked (GlcNAc...) (Potential).
616N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
Location(AA) Modification Resource
36Phosphoserine(CK1)HMM predict
47Phosphoserine(ATM)HMM predict
54O-linkedHMM predict
58O-linkedHMM predict
59Phosphoserine(IKK)HMM predict
59Phosphoserine(CDK)HMM predict
59Phosphoserine(CDC2)HMM predict
59Phosphoserine(ATM)HMM predict
59O-linkedHMM predict
61O-linkedHMM predict
61Phosphoserine(CK1)HMM predict
62Phosphoserine(ATM)HMM predict
62Phosphoserine(CDC2)HMM predict
62Phosphoserine(IKK)HMM predict
62Phosphoserine(CDK)HMM predict
173Phosphothreonine(PKA)HMM predict
255Phosphoserine(CDK)HMM predict
257N-linkedHMM predict
259Phosphoserine(ATM)HMM predict
333Phosphoserine(PKA)HMM predict
382Phosphothreonine(PKC)HMM predict
389N-linkedHMM predict
390N-linkedHMM predict
448Phosphotyrosine(Jak)HMM predict
599N-linkedHMM predict
611N-linkedHMM predict
616N-linkedHMM predict
716Phosphoserine(CK2)HMM predict
716Phosphoserine(CK1)HMM predict
764Phosphothreonine(PKC)HMM predict
795PhosphoserineHMM predict
808Phosphoserine(CDK)HMM predict
809ArginineHMM predict
812Phosphoserine(PKG)HMM predict
812Phosphoserine(IKK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_017901
  • Location:chr12 112143651-112218315
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Rb GrowingGSE19898 112143387 112143678 291 119
Rb SenescentGSE19898 112143375 112143711 336 109
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 112219353 112219660 307 1191
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 112163537 112164783 1246 0
CTCF G2GSE9613 112143345 112144245 900 0
CTCF G2GSE9613 112153759 112153983 224 0
CTCF G2GSE9613 112154410 112154725 315 0
CTCF G2GSE9613 112157146 112157326 180 0
CTCF G2GSE9613 112161752 112161932 180 0
CTCF G2GSE9613 112166819 112167144 325 0
CTCF G2GSE9613 112168585 112169197 612 0
CTCF G2GSE9613 112174578 112174952 374 0
CTCF G2GSE9613 112188361 112188901 540 0
CTCF G2GSE9613 112190173 112191209 1036 0
CTCF G2GSE9613 112199199 112199655 456 0
CTCF G2GSE9613 112200882 112201201 319 0
CTCF G2GSE9613 112208935 112209448 513 0
CTCF G2GSE9613 112210273 112210481 208 0
CTCF G2GSE9613 112211926 112212300 374 0
CTCF G2GSE9613 112213240 112213897 657 0
CTCF G2GSE9613 112214660 112215044 384 0
CTCF G2GSE9613 112215541 112215787 246 0
ER Breast-CancerGSE22609 112143881 112144536 655 0
ER E2-MCF7GSE14664 112205767 112205799 32 0
ER E2-MCF7GSE14664 112213375 112213411 36 0
FOXA1 DLD1GSE12801 112145017 112145675 658 0
FOXA1 DLD1GSE12801 112163541 112164247 706 0
FOXA1 DLD1GSE12801 112168091 112168986 895 0
FOXA1 MCF7GSE15244 112145017 112145675 658 0
FOXA1 MCF7GSE15244 112156464 112156837 373 0
FOXA1 MCF7GSE15244 112163472 112164280 808 0
FOXA1 MCF7GSE15244 112167870 112169197 1327 0
FoxA1 MCF7MACSdata 112145303 112145517 214 0
FoxA1 MCF7MACSdata 112168129 112168319 190 0
H3ac HepG2E 112145017 112145639 622 0
H3ac HepG2E 112151313 112151663 350 0
NFkBII GM10847GSE19485 112151790 112152746 956 0
NFkBII GM12878GSE19485 112150654 112152981 2327 0
NFkBII GM12892GSE19485 112151033 112152899 1866 0
NFkBII GM15510GSE19485 112151409 112152713 1304 0
NFkBII GM18505GSE19485 112151559 112152777 1218 0
NRSF JurkatGSE13047 112195206 112195744 538 0
NRSF pAbJurkat 112166491 112167144 653 0
NRSF pAbJurkat 112190462 112190942 480 0
NRSF pAbJurkat 112213997 112214170 173 0
NRSF-poly JurkatQuESTdata 112195175 112195704 529 0
Oct1 H2O2-HelaGSE14283 112146974 112147002 28 0
Oct1 H2O2-HelaGSE14283 112183976 112184006 30 0
Oct1 H2O2-HelaGSE14283 112214499 112214533 34 0
Oct1 HelaGSE14283 112146974 112147030 56 0
Oct1 HelaGSE14283 112188580 112188623 43 0
Oct1 HelaGSE14283 112192280 112192341 61 0
Oct1 HelaGSE14283 112213378 112213405 27 0
Oct1 HelaGSE14283 112214494 112214533 39 0
P300 T30-glioblastomaGSE21026 112153505 112154291 786 0
P300 T30-glioblastomaGSE21026 112163303 112164797 1494 0
PHF8 293TGSE20725 112143256 112144314 1058 0
PHF8 HeLaGSE20725 112143462 112144351 889 0
RARA MCF7GSE15244 112145017 112145675 658 0
RARA MCF7GSE15244 112163277 112164504 1227 0
RARA MCF7GSE15244 112167870 112168839 969 0
RARG MCF7GSE15244 112145017 112145675 658 0
RARG MCF7GSE15244 112153759 112153983 224 0
RARG MCF7GSE15244 112156218 112156873 655 0
RARG MCF7GSE15244 112163429 112164504 1075 0
RARG MCF7GSE15244 112167870 112169384 1514 0
RUNX JurkatGSE17954 112201320 112201444 124 0
TAF HelaGSE8489 112166193 112166819 626 0
TAF k562GSE8489 112166023 112166948 925 0
TFAP2C MCF7GSE21234 112167826 112169237 1411 0
USF1 HepG2E 112151980 112152438 458 0
USF2 HepG2E 112151980 112152438 458 0
hScc1 BcellGSE12603 112212143 112212597 454 0
hScc1 BcellGSE12603 112218049 112218513 464 0
hScc1 CdLSGSE12603 112152018 112152438 420 0
hScc1 G2GSE9613 112143382 112144245 863 0
p130 shRbSenescentGSE19898 112168113 112168292 179 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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