AutismKB 2.0

Annotation Detail for PTBP1


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Basic Information Top
Gene Symbol:PTBP1 ( HNRNP-I,HNRNPI,HNRPI,MGC10830,MGC8461,PTB,PTB-1,PTB-T,PTB2,PTB3,PTB4,pPTB )
Gene Full Name: polypyrimidine tract binding protein 1
Band: 19p13.3
Quick LinksEntrez ID:5725; OMIM: 600693; Uniprot ID:PTBP1_HUMAN; ENSEMBL ID: ENSG00000011304; HGNC ID: 9583
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 body45 / 70761635
blastocyst78 / 623191251
fetus110 / 564012195
neonate1 / 3109732
infant1 / 2362042
juvenile54 / 55556971
adult550 / 1939121283
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor4 / 12794312
bladder carcinoma2 / 17475114
breast (mammary gland) tumor18 / 94178191
cervical tumor16 / 34366465
chondrosarcoma22 / 82823265
colorectal tumor24 / 114246210
esophageal tumor0 / 172900 
gastrointestinal tumor35 / 119369293
germ cell tumor72 / 263845272
glioma28 / 106883261
head and neck tumor23 / 136302168
kidney tumor19 / 68959275
leukemia49 / 95842511
liver tumor26 / 96359269
lung tumor27 / 103127261
lymphoma73 / 717551017
non-neoplasia12 / 97250123
normal858 / 3360307255
ovarian tumor37 / 76682482
pancreatic tumor48 / 104616458
primitive neuroectodermal tumor of the CNS72 / 125680572
prostate cancer24 / 102680233
retinoblastoma20 / 46356431
skin tumor83 / 124949664
soft tissue/muscle tissue tumor25 / 125191199
uterine tumor27 / 90257299
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland5 / 33197150
ascites13 / 40015324
bladder5 / 29757168
blood43 / 123478348
bone15 / 71655209
bone marrow10 / 48801204
brain100 / 110098990
cervix29 / 48171602
connective tissue11 / 14925573
ear2 / 16212123
embryonic tissue166 / 215722769
esophagus0 / 202090 
eye46 / 211054217
heart20 / 89626223
intestine87 / 234472371
kidney35 / 211777165
larynx0 / 241450 
liver46 / 207743221
lung65 / 336974192
lymph28 / 44270632
lymph node63 / 91610687
mammary gland37 / 153271241
mouth4 / 6705259
muscle4 / 10771537
nerve1 / 1576863
ovary40 / 102051391
pancreas93 / 214812432
parathyroid7 / 20539340
pharynx7 / 41328169
pituitary gland1 / 1658560
placenta231 / 280825822
prostate30 / 189345158
salivary gland7 / 20155347
skin103 / 210574489
spleen3 / 5395255
stomach11 / 96619113
testis39 / 330442118
thymus3 / 8113136
thyroid7 / 47473147
tonsil11 / 16999647
trachea0 / 524130 
umbilical cord1 / 1368073
uterus53 / 232878227
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212015_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts1434.05
Adipocyte85.25
AdrenalCortex85.75
Adrenalgland128.15
Amygdala16.2
Appendix38.1
AtrioventricularNode39.7
BDCA4+_DentriticCells605.85
Bonemarrow264.65
BronchialEpithelialCells491.4
CD105+_Endothelial695.6
CD14+_Monocytes435.1
CD19+_BCells(neg._sel.)425.7
CD33+_Myeloid644
CD34+971.95
CD4+_Tcells547.4
CD56+_NKCells389.85
CD71+_EarlyErythroid608.8
CD8+_Tcells455.6
CardiacMyocytes231.6
Caudatenucleus25.95
Cerebellum32.2
CerebellumPeduncles26.65
CiliaryGanglion18
CingulateCortex31.45
Colorectaladenocarcinoma451.85
DorsalRootGanglion20.1
FetalThyroid255
Fetalbrain25.9
Fetalliver175.3
Fetallung286.5
GlobusPallidus6.1
Heart48.9
Hypothalamus49.75
Kidney123.1
Leukemia_chronicMyelogenousK-562587.8
Leukemia_promyelocytic-HL-60340.9
Leukemialymphoblastic(MOLT-4)642.35
Liver134.8
Lung414.65
Lymphnode158.7
Lymphoma_burkitts(Daudi)398.85
Lymphoma_burkitts(Raji)478.45
MedullaOblongata18
OccipitalLobe23.3
OlfactoryBulb55.8
Ovary48.2
Pancreas116.85
PancreaticIslet159.2
ParietalLobe17.35
Pituitary196.6
Placenta474
Pons19.25
PrefrontalCortex45.25
Prostate411.45
Salivarygland42.35
SkeletalMuscle54.4
Skin73.45
SmoothMuscle413.5
Spinalcord56
SubthalamicNucleus18.6
SuperiorCervicalGanglion10.9
TemporalLobe16.4
Testis130.05
TestisGermCell131.4
TestisIntersitial69.5
TestisLeydigCell55.65
TestisSeminiferousTubule52.5
Thalamus31
Thymus551.65
Thyroid409.95
Tongue132.55
Tonsil266.6
Trachea186.8
TrigeminalGanglion45.8
Uterus256.25
UterusCorpus49
WholeBlood171.75
Wholebrain27.95
colon203.9
pineal_day74.64
pineal_night67.86
retina231.825
small_intestine286.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_14036_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
Amygdala2.81 ± 1
Basal Forebrain2.2 ± 0.3
Basal Part of Pons2.16 ± 0.4
Cerebellar Cortex2.19 ± 0.63
Cerebellar Nuclei2.68 ± 0.72
Claustrum2.92 ± 0.73
Epithalamus2.54 ± 0.69
Frontal Lobe2.19 ± 0.66
Globus Pallidus3.06 ± 0.47
Hypothalamus2.19 ± 0.8
Insula2.1 ± 0.53
Limbic Lobe2.38 ± 0.68
Mesencephalon2.58 ± 0.72
Myelencephalon2.5 ± 0.75
Occipital Lobe2.63 ± 0.78
Parietal Lobe2.46 ± 0.82
Pontine Tegmentum2.34 ± 0.68
Striatum2.8 ± 0.66
Subthalamus2.45 ± 0.7
Temporal Lobe2.29 ± 0.81
Thalamus2.43 ± 0.68
White Matter2.57 ± 0.25
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ptbp1CBCerebellum21.1
25.54
Ptbp1CTXCerebral cortex56.09
51.99
Ptbp1HIPHippocampal region40.91
52.2
Ptbp1HPFHippocampal formation50.44
51.64
Ptbp1HYHypothalamus42.82
37.52
Ptbp1LSXLateral septal complex40.09
31.05
Ptbp1MBMidbrain36.46
34.35
Ptbp1MYMedulla33.17
36.24
Ptbp1OLFOlfactory bulb56.57
53.06
Ptbp1PPons33.26
32.69
Ptbp1PALPallidum36.75
32.73
Ptbp1RHPRetrohippocampal region51.61
50.68
Ptbp1sAMYStriatum-like amygdalar nuclei54.56
48.29
Ptbp1STRStriatum51.88
50.88
Ptbp1STRdStriatum dorsal region51.64
50.93
Ptbp1STRvStriatum ventral region51.83
50.65
Ptbp1THThalamus42.76
37.02
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00003098 32 15 46 GSDELFSTCVTNGPFIMSSNSASAANGNDSKK Peptide Atlas
PTBP1_HUMAN_1 13 1 13 MDGIVPDIAVGTK PRIDE
PTBP1_HUMAN_1 14 1 14 MDGIVPDIAVGTKR PRIDE
PTBP1_HUMAN_131 16 131 146 SNHKELKTDSSPNQAR PRIDE
PTBP1_HUMAN_173 13 173 185 AGMAMAGQSPVLR PRIDE
PTBP1_HUMAN_176 10 176 185 AMAGQSPVLR PRIDE
PTBP1_HUMAN_185 21 185 205 IIVENLFYPVTLDVLHQIFSK PRIDE
PTBP1_HUMAN_218 20 218 237 NNQFQALLQYADPVSAQHAK PRIDE
PTBP1_HUMAN_3 12 3 14 GIVPDIAVGTKR PRIDE
PTBP1_HUMAN_300 26 300 325 SVPNVHGALAPLAIPSAAAAAAAAGR PRIDE
PTBP1_HUMAN_32 21 32 52 SSNSASAANGNDSKKFKGDSR PRIDE
PTBP1_HUMAN_325 23 325 347 IAIPGLAGAGNSVLLVSNLNPER PRIDE
PTBP1_HUMAN_326 23 326 348 IAIPGLAGAGNSVLLVSNLNPER PRIDE
PTBP1_HUMAN_348 18 348 365 VTPQSLFILFGVYGDVQR PRIDE
PTBP1_HUMAN_406 13 406 418 ITLSKHQNVQLPR PRIDE
PTBP1_HUMAN_491 32 491 522 KMALIQMGSVEEAVQALIDLHNHDLGENHHLR PRIDE
PTBP1_HUMAN_492 31 492 522 MALIQMGSVEEAVQALIDLHNHDLGENHHLR PRIDE
PTBP1_HUMAN_64 20 64 83 KLPIDVTEGEVISLGLPFGK PRIDE
PTBP1_HUMAN_8 7 8 14 IAVGTKR PRIDE
PTBP1_HUMAN_84 8 84 91 VTNLLMLK 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


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