AutismKB 2.0

Annotation Detail for PIBF1


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Basic Information Top
Gene Symbol:PIBF1 ( C13orf24,KIAA1008,PIBF,RP11-505F3.1 )
Gene Full Name: progesterone immunomodulatory binding factor 1
Band: 13q21.33-q22.1
Quick LinksEntrez ID:10464; OMIM: 607532; Uniprot ID:PIBF1_HUMAN; ENSEMBL ID: ENSG00000083535; HGNC ID: 23352
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 
blastocyst3 / 6231948
fetus18 / 56401231
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult75 / 193912138
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) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor6 / 26384522
glioma1 / 1068839
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia5 / 9584252
liver tumor5 / 9635951
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal68 / 336030720
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma1 / 4635621
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor45 / 125191359
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites1 / 4001524
bladder0 / 297570 
blood3 / 12347824
bone1 / 7165513
bone marrow2 / 4880140
brain14 / 110098912
cervix0 / 481710 
connective tissue46 / 149255308
ear1 / 1621261
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye4 / 21105418
heart0 / 896260 
intestine5 / 23447221
kidney3 / 21177714
larynx0 / 241450 
liver7 / 20774333
lung5 / 33697414
lymph0 / 442700 
lymph node3 / 9161032
mammary gland1 / 1532716
mouth0 / 670520 
muscle4 / 10771537
nerve0 / 157680 
ovary0 / 1020510 
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta5 / 28082517
prostate2 / 18934510
salivary gland2 / 2015599
skin1 / 2105744
spleen0 / 539520 
stomach3 / 9661931
testis12 / 33044236
thymus3 / 8113136
thyroid1 / 4747321
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus7 / 23287830
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213239_at
Cell line Expression level Expression bar
721_B_lymphoblasts20.9
Adipocyte11.15
AdrenalCortex14.95
Adrenalgland9.1
Amygdala11.2
Appendix14.25
AtrioventricularNode12.1
BDCA4+_DentriticCells16.55
Bonemarrow12.05
BronchialEpithelialCells11.6
CD105+_Endothelial27.4
CD14+_Monocytes19.35
CD19+_BCells(neg._sel.)72.8
CD33+_Myeloid15.2
CD34+26.1
CD4+_Tcells12.95
CD56+_NKCells45.1
CD71+_EarlyErythroid11.15
CD8+_Tcells13.35
CardiacMyocytes19.9
Caudatenucleus10.5
Cerebellum8
CerebellumPeduncles13.35
CiliaryGanglion10.25
CingulateCortex12.25
Colorectaladenocarcinoma11.65
DorsalRootGanglion10.55
FetalThyroid29.3
Fetalbrain11.75
Fetalliver9.4
Fetallung10.25
GlobusPallidus8.7
Heart18.3
Hypothalamus11.2
Kidney9.65
Leukemia_chronicMyelogenousK-56210.65
Leukemia_promyelocytic-HL-6014.4
Leukemialymphoblastic(MOLT-4)9.2
Liver17
Lung11.1
Lymphnode10.35
Lymphoma_burkitts(Daudi)15.8
Lymphoma_burkitts(Raji)16.4
MedullaOblongata10.45
OccipitalLobe9.8
OlfactoryBulb10.05
Ovary10.25
Pancreas11.4
PancreaticIslet13.2
ParietalLobe12.8
Pituitary13.75
Placenta9.75
Pons11.85
PrefrontalCortex15.15
Prostate11.75
Salivarygland9.85
SkeletalMuscle17.45
Skin10.75
SmoothMuscle16.05
Spinalcord12.45
SubthalamicNucleus10.8
SuperiorCervicalGanglion17.3
TemporalLobe10.9
Testis9.5
TestisGermCell43.2
TestisIntersitial99.35
TestisLeydigCell34.9
TestisSeminiferousTubule34.65
Thalamus12.3
Thymus8.8
Thyroid14.85
Tongue13.15
Tonsil11.55
Trachea9.8
TrigeminalGanglion14.7
Uterus10.75
UterusCorpus11.7
WholeBlood13.2
Wholebrain8.5
colon10.1
pineal_day15.66
pineal_night14.64
retina13.275
small_intestine9.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_4932_PI416261804
  • 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
Amygdala5.02 ± 0.43
Basal Forebrain4.89 ± 0.24
Basal Part of Pons4.88 ± 0.3
Cerebellar Cortex4.94 ± 0.42
Cerebellar Nuclei4.74 ± 0.49
Claustrum5.1 ± 0.85
Epithalamus5.09 ± 0.44
Frontal Lobe4.74 ± 0.35
Globus Pallidus4.84 ± 0.71
Hypothalamus4.8 ± 0.32
Insula4.67 ± 0.27
Limbic Lobe4.9 ± 0.34
Mesencephalon4.79 ± 0.36
Myelencephalon4.81 ± 0.43
Occipital Lobe5.18 ± 0.41
Parietal Lobe4.88 ± 0.38
Pontine Tegmentum4.83 ± 0.5
Striatum5.04 ± 0.35
Subthalamus4.65 ± 0.58
Temporal Lobe4.77 ± 0.43
Thalamus4.74 ± 0.32
White Matter4.75 ± 0.3
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
D14Ertd581eCBCerebellum1.95
2.01
D14Ertd581eCTXCerebral cortex4.13
2.83
D14Ertd581eHIPHippocampal region5.79
6.16
D14Ertd581eHPFHippocampal formation5.65
5.16
D14Ertd581eHYHypothalamus0.1
0.08
D14Ertd581eLSXLateral septal complex0.24
0.24
D14Ertd581eMBMidbrain0.27
0.25
D14Ertd581eMYMedulla0.72
0.84
D14Ertd581eOLFOlfactory bulb5.29
4.68
D14Ertd581ePPons0.49
0.41
D14Ertd581ePALPallidum0.34
0.36
D14Ertd581eRHPRetrohippocampal region5.59
4.04
D14Ertd581esAMYStriatum-like amygdalar nuclei0.8
0.46
D14Ertd581eSTRStriatum0.6
0.51
D14Ertd581eSTRdStriatum dorsal region0.69
0.65
D14Ertd581eSTRvStriatum ventral region0.44
0.24
D14Ertd581eTHThalamus0.56
0.49
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PIBF1_HUMAN_390 7 390 396 QEIDQLR PRIDE

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