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
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body0 / 707610 
blastocyst1 / 6231916
fetus18 / 56401231
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult75 / 193912138
embryoid body0 / 707610 
blastocyst0 / 623190 
fetus4 / 5640127
neonate0 / 310970 
infant2 / 2362084
juvenile0 / 555560 
adult26 / 193912113
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor6 / 11936950
germ cell tumor9 / 26384534
glioma5 / 10688346
head and neck tumor3 / 13630222
kidney tumor2 / 6895929
leukemia9 / 9584293
liver tumor0 / 963590 
lung tumor2 / 10312719
lymphoma4 / 7175555
non-neoplasia3 / 9725030
normal111 / 336030733
ovarian tumor4 / 7668252
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor17 / 124949136
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor1 / 9025711
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor5 / 26384518
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal51 / 336030715
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites3 / 4001574
bladder0 / 297570 
blood1 / 1234788
bone2 / 7165527
bone marrow3 / 4880161
brain28 / 110098925
cervix1 / 4817120
connective tissue6 / 14925540
ear0 / 162120 
embryonic tissue8 / 21572237
esophagus0 / 202090 
eye29 / 211054137
heart4 / 8962644
intestine6 / 23447225
kidney5 / 21177723
larynx2 / 2414582
liver2 / 2077439
lung4 / 33697411
lymph1 / 4427022
lymph node6 / 9161065
mammary gland4 / 15327126
mouth3 / 6705244
muscle0 / 1077150 
nerve0 / 157680 
ovary4 / 10205139
pancreas11 / 21481251
parathyroid1 / 2053948
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta1 / 2808253
prostate2 / 18934510
salivary gland0 / 201550 
skin17 / 21057480
spleen1 / 5395218
stomach2 / 9661920
testis6 / 33044218
thymus1 / 8113112
thyroid0 / 474730 
tonsil2 / 16999117
trachea0 / 524130 
umbilical cord0 / 136800 
uterus5 / 23287821
vascular1 / 5178019
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone1 / 7165513
bone marrow0 / 488010 
brain14 / 110098912
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye5 / 21105423
heart1 / 8962611
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver1 / 2077434
lung2 / 3369745
lymph0 / 442700 
lymph node8 / 9161087
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve1 / 1576863
ovary0 / 1020510 
pancreas9 / 21481241
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219155_at
Cell line Expression level Expression bar
721_B_lymphoblasts21.6
Adipocyte21.1
AdrenalCortex26.85
Adrenalgland20.45
Amygdala28.7
Appendix26.1
AtrioventricularNode21
BDCA4+_DentriticCells21.65
Bonemarrow30
BronchialEpithelialCells26.55
CD105+_Endothelial12.7
CD14+_Monocytes58.95
CD19+_BCells(neg._sel.)31.25
CD33+_Myeloid60.15
CD34+23.05
CD4+_Tcells217.95
CD56+_NKCells617.55
CD71+_EarlyErythroid20.6
CD8+_Tcells306.05
CardiacMyocytes29.15
Caudatenucleus28.4
Cerebellum21.7
CerebellumPeduncles38.25
CiliaryGanglion16.8
CingulateCortex31.55
Colorectaladenocarcinoma25.6
DorsalRootGanglion17.95
FetalThyroid27.5
Fetalbrain26.95
Fetalliver20.35
Fetallung23.6
GlobusPallidus19.1
Heart32.7
Hypothalamus29.15
Kidney30.5
Leukemia_chronicMyelogenousK-56222.1
Leukemia_promyelocytic-HL-6025.15
Leukemialymphoblastic(MOLT-4)66.55
Liver31.9
Lung67.1
Lymphnode26.65
Lymphoma_burkitts(Daudi)37.1
Lymphoma_burkitts(Raji)44.6
MedullaOblongata24.15
OccipitalLobe24.1
OlfactoryBulb20.95
Ovary17.3
Pancreas23.75
PancreaticIslet85.2
ParietalLobe28.3
Pituitary49.5
Placenta27.5
Pons26.2
PrefrontalCortex44.15
Prostate32.2
Salivarygland23.9
SkeletalMuscle46.6
Skin19.95
SmoothMuscle23.75
Spinalcord43
SubthalamicNucleus21.4
SuperiorCervicalGanglion34.55
TemporalLobe28.3
Testis21.6
TestisGermCell15.9
TestisIntersitial13.7
TestisLeydigCell28.5
TestisSeminiferousTubule21.85
Thalamus28.9
Thymus75.5
Thyroid26.55
Tongue16.5
Tonsil32.55
Trachea24.45
TrigeminalGanglion47.1
Uterus18
UterusCorpus25.85
WholeBlood127.2
Wholebrain26.75
colon18.4
pineal_day30.06
pineal_night32.78
retina38.825
small_intestine17.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P66473
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala8.44 ± 0.42
Basal Forebrain8.88 ± 0.25
Basal Part of Pons7.84 ± 0.41
Cerebellar Cortex8.01 ± 0.17
Cerebellar Nuclei8.6 ± 0.43
Claustrum8.42 ± 0.43
Epithalamus8.92 ± 0.22
Frontal Lobe8.48 ± 0.45
Globus Pallidus9.81 ± 0.39
Hypothalamus8.73 ± 0.27
Insula8.38 ± 0.3
Limbic Lobe8.19 ± 0.55
Mesencephalon8.72 ± 0.57
Myelencephalon8.65 ± 0.54
Occipital Lobe8.89 ± 0.7
Parietal Lobe8.62 ± 0.43
Pontine Tegmentum8.68 ± 0.36
Striatum9.27 ± 0.54
Subthalamus8.64 ± 0.19
Temporal Lobe8.2 ± 0.4
Thalamus9.15 ± 0.46
White Matter7.5 ± 0.35
Mouse Brain ISH
Peptide 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