AutismKB 2.0

Annotation Detail for PITPNC1


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Basic Information Top
Gene Symbol:PITPNC1 ( RDGB-BETA,RDGBB,RDGBB1 )
Gene Full Name: phosphatidylinositol transfer protein, cytoplasmic 1
Band: 17q24.3
Quick LinksEntrez ID:26207; OMIM: 605134; Uniprot ID:PITC1_HUMAN; ENSEMBL ID: ENSG00000154217; HGNC ID: 21045
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
274Phosphoserine (By similarity).
Location(AA) Modifications Resource
274Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
29PhosphoserineHMM predict
58Phosphothreonine(PKC)HMM predict
98O-linkedHMM predict
120N-linkedHMM predict
126N-linkedHMM predict
150SulfotyrosineHMM predict
188Phosphothreonine(PKC)HMM predict
266Phosphoserine(CDC2)HMM predict
273O-linkedHMM predict
274O-linkedHMM predict
274Phosphoserine(IKK)HMM predict
277O-linkedHMM predict
278O-linkedHMM predict
278Phosphothreonine(CDK)HMM predict
278Phosphothreonine(MAPK)HMM predict
282O-linkedHMM predict
299Phosphoserine(PKB)HMM predict
299Phosphoserine(PKG)HMM predict
299Phosphoserine(IKK)HMM predict
314Phosphothreonine(PKA)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_181671
  • Location:chr17 62804385-63120106
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 62801167 62801469 302 3068
CTCF CD4SISSRdata 62801167 62801469 302 3068
CTCF HelaGSE12889 62801263 62801510 247 2999
CTCF G2GSE9613 62801041 62801658 617 3036
RARA MCF7GSE15244 62800855 62801514 659 3201
RARG MCF7GSE15244 62800855 62801514 659 3201
hScc1 BcellGSE12603 62800997 62801593 596 3091
hScc1 BcellGSE12603 62803704 62804280 576 394
hScc1 CdLSGSE12603 62800855 62802032 1177 2942
hScc1 G2GSE9613 62800926 62801658 732 3094
p130 shRbSenescentGSE19898 62803429 62803924 495 709
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
RNAII Tamoxifen-MCF7GSE14664 63125844 63125932 88 5782
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 62817062 62817991 929 0
CBP T30-glioblastomaGSE21026 62848216 62849005 789 0
CBP T30-glioblastomaGSE21026 62917469 62918255 786 0
CTCF CD4GSE12889 62813600 62813841 241 0
CTCF CD4GSE12889 62901952 62902278 326 0
CTCF CD4GSE12889 63029695 63029995 300 0
CTCF CD4GSE12889 63056644 63056805 161 0
CTCF CD4GSE12889 63116199 63116432 233 0
CTCF CD4SISSRdata 62813600 62813841 241 0
CTCF CD4SISSRdata 62901952 62902278 326 0
CTCF CD4SISSRdata 63029695 63029995 300 0
CTCF CD4SISSRdata 63056644 63056805 161 0
CTCF CD4SISSRdata 63116199 63116432 233 0
CTCF G2GSE9613 62804550 62804860 310 0
CTCF G2GSE9613 62805249 62805880 631 0
CTCF G2GSE9613 62813217 62813935 718 0
CTCF G2GSE9613 62901792 62902423 631 0
CTCF G2GSE9613 62985890 62986148 258 0
CTCF G2GSE9613 63029629 63029882 253 0
CTCF G2GSE9613 63116021 63116333 312 0
ER E2-MCF7GSE14664 63113523 63113624 101 0
ER MCF7GSE19013 62837797 62838677 880 0
ER MCF7GSE19013 62893999 62894925 926 0
ER MCF7GSE19013 62983636 62984442 806 0
FOXA1 MCF7GSE15244 62816911 62817780 869 0
NFkBII GM12878GSE19485 63004077 63006689 2612 0
NFkBII GM12878GSE19485 63076459 63079038 2579 0
NFkBII GM12878GSE19485 63081644 63086128 4484 0
Nanog hESGSE18292 62928895 62929036 141 0
Nanog hESGSE18292 62946423 62946874 451 0
Nanog hESGSE18292 63029666 63029895 229 0
Oct1 H2O2-HelaGSE14283 63062707 63062742 35 0
Oct1 HelaGSE14283 63061138 63061175 37 0
Oct1 HelaGSE14283 63062704 63062743 39 0
P300 T0-glioblastomaGSE21026 62848226 62848977 751 0
P300 T0-glioblastomaGSE21026 63011415 63012194 779 0
P300 T30-glioblastomaGSE21026 62816891 62818055 1164 0
P300 T30-glioblastomaGSE21026 62848262 62849130 868 0
P300 T30-glioblastomaGSE21026 62917395 62918375 980 0
RARA MCF7GSE15244 62805842 62806258 416 0
RARA MCF7GSE15244 62813284 62813769 485 0
RARA MCF7GSE15244 62816639 62817846 1207 0
RARA MCF7GSE15244 62848265 62848834 569 0
RARA MCF7GSE15244 62858198 62858669 471 0
RARA MCF7GSE15244 62901532 62902658 1126 0
RARA MCF7GSE15244 62917138 62918154 1016 0
RARA MCF7GSE15244 62948046 62948560 514 0
RARA MCF7GSE15244 63032709 63034079 1370 0
RARA MCF7GSE15244 63056155 63056884 729 0
RARA MCF7GSE15244 63064237 63065231 994 0
RARA MCF7GSE15244 63066017 63066856 839 0
RARG MCF7GSE15244 62805842 62806258 416 0
RARG MCF7GSE15244 62816875 62817813 938 0
RARG MCF7GSE15244 62848265 62848798 533 0
RARG MCF7GSE15244 62857938 62858632 694 0
RARG MCF7GSE15244 62901532 62902658 1126 0
RARG MCF7GSE15244 62917210 62917882 672 0
RARG MCF7GSE15244 63038359 63038674 315 0
RARG MCF7GSE15244 63063549 63065188 1639 0
STAT1 HeLaGSE12783 62816455 62818211 1756 0
STAT1 HeLaGSE12783 62847844 62849212 1368 0
STAT1 HeLaGSE12783 62928257 62930396 2139 0
TAF HelaGSE8489 62875657 62875876 219 0
TAF k562GSE8489 63039795 63039981 186 0
TAFII hESGSE17917 62902073 62902484 411 0
TFAP2C MCF7GSE21234 63011563 63012189 626 0
hScc1 BcellGSE12603 62805249 62805880 631 0
hScc1 BcellGSE12603 62813460 62813935 475 0
hScc1 BcellGSE12603 62901826 62902423 597 0
hScc1 BcellGSE12603 62985852 62986148 296 0
hScc1 BcellGSE12603 63029629 63029939 310 0
hScc1 BcellGSE12603 63077343 63077524 181 0
hScc1 BcellGSE12603 63115839 63116476 637 0
hScc1 CdLSGSE12603 62805143 62805880 737 0
hScc1 CdLSGSE12603 62813491 62813935 444 0
hScc1 CdLSGSE12603 62901649 62902521 872 0
hScc1 CdLSGSE12603 62985852 62986148 296 0
hScc1 CdLSGSE12603 63001889 63002190 301 0
hScc1 CdLSGSE12603 63029629 63029939 310 0
hScc1 CdLSGSE12603 63115839 63116592 753 0
hScc1 G2GSE9613 62805249 62805880 631 0
hScc1 G2GSE9613 62813425 62813935 510 0
hScc1 G2GSE9613 62901603 62902423 820 0
hScc1 G2GSE9613 63029629 63029882 253 0
p130 SenescentGSE19898 62805503 62805950 447 0
p130 SenescentGSE19898 62805964 62806213 249 0
p130 shRbSenescentGSE19898 62901942 62902244 302 0
p63 keratinocytesGSE17611 62839800 62840632 832 0
p63 keratinocytesGSE17611 63064176 63065552 1376 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
11561 mRNA PITPNC1 chr17 62804385 63120107 64 EST chr17 63101740 63115877Sense/Antisense (SA) 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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