AutismKB 2.0

Annotation Detail for PRPF40A


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Basic Information Top
Gene Symbol:PRPF40A ( FBP-11,FBP11,FLAF1,FLJ20585,FNBP3,HIP-10,HIP10,HYPA,NY-REN-6,Prp40 )
Gene Full Name: PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)
Band: 2q23.3
Quick LinksEntrez ID:55660; OMIM: 612941; Uniprot ID:PR40A_HUMAN; ENSEMBL ID: ENSG00000196504; HGNC ID: 16463
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 body10 / 70761141
blastocyst6 / 6231996
fetus42 / 56401274
neonate3 / 3109796
infant2 / 2362084
juvenile2 / 5555635
adult150 / 193912177
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor3 / 9417831
cervical tumor4 / 34366116
chondrosarcoma10 / 82823120
colorectal tumor13 / 114246113
esophageal tumor2 / 17290115
gastrointestinal tumor12 / 119369100
germ cell tumor22 / 26384583
glioma8 / 10688374
head and neck tumor9 / 13630266
kidney tumor3 / 6895943
leukemia7 / 9584273
liver tumor16 / 96359166
lung tumor4 / 10312738
lymphoma1 / 7175513
non-neoplasia4 / 9725041
normal237 / 336030770
ovarian tumor9 / 76682117
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer5 / 10268048
retinoblastoma3 / 4635664
skin tumor15 / 124949120
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland3 / 3319790
ascites5 / 40015124
bladder2 / 2975767
blood14 / 123478113
bone8 / 71655111
bone marrow5 / 48801102
brain38 / 110098934
cervix4 / 4817183
connective tissue6 / 14925540
ear0 / 162120 
embryonic tissue28 / 215722129
esophagus2 / 2020998
eye13 / 21105461
heart5 / 8962655
intestine18 / 23447276
kidney21 / 21177799
larynx3 / 24145124
liver30 / 207743144
lung32 / 33697494
lymph1 / 4427022
lymph node11 / 91610120
mammary gland15 / 15327197
mouth2 / 6705229
muscle4 / 10771537
nerve0 / 157680 
ovary11 / 102051107
pancreas12 / 21481255
parathyroid3 / 20539146
pharynx4 / 4132896
pituitary gland0 / 165850 
placenta5 / 28082517
prostate10 / 18934552
salivary gland1 / 2015549
skin17 / 21057480
spleen4 / 5395274
stomach8 / 9661982
testis26 / 33044278
thymus3 / 8113136
thyroid4 / 4747384
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord2 / 13680146
uterus17 / 23287872
vascular6 / 51780115
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213729_at
Cell line Expression level Expression bar
721_B_lymphoblasts406.7
Adipocyte25.25
AdrenalCortex38.95
Adrenalgland2.9
Amygdala22.9
Appendix27.1
AtrioventricularNode10.4
BDCA4+_DentriticCells240.95
Bonemarrow3.5
BronchialEpithelialCells175.45
CD105+_Endothelial197
CD14+_Monocytes176.85
CD19+_BCells(neg._sel.)194.85
CD33+_Myeloid323.05
CD34+328.1
CD4+_Tcells143.45
CD56+_NKCells197.25
CD71+_EarlyErythroid130.7
CD8+_Tcells178.75
CardiacMyocytes45
Caudatenucleus8.55
Cerebellum5.8
CerebellumPeduncles9
CiliaryGanglion12.65
CingulateCortex25.65
Colorectaladenocarcinoma112.4
DorsalRootGanglion16.7
FetalThyroid51.25
Fetalbrain18.85
Fetalliver76.7
Fetallung32.1
GlobusPallidus9
Heart7.4
Hypothalamus16.05
Kidney6.4
Leukemia_chronicMyelogenousK-56267.95
Leukemia_promyelocytic-HL-6077.35
Leukemialymphoblastic(MOLT-4)57.55
Liver7.75
Lung11.2
Lymphnode20.15
Lymphoma_burkitts(Daudi)80.2
Lymphoma_burkitts(Raji)38.3
MedullaOblongata18.05
OccipitalLobe21.35
OlfactoryBulb45.05
Ovary17.15
Pancreas56.35
PancreaticIslet53.8
ParietalLobe16.9
Pituitary60.4
Placenta7.75
Pons10.2
PrefrontalCortex32.55
Prostate56.5
Salivarygland13.25
SkeletalMuscle14.9
Skin11.5
SmoothMuscle99.35
Spinalcord11.6
SubthalamicNucleus13.55
SuperiorCervicalGanglion11.45
TemporalLobe12.05
Testis11.4
TestisGermCell94.5
TestisIntersitial130.1
TestisLeydigCell48.25
TestisSeminiferousTubule80.6
Thalamus10.45
Thymus16.25
Thyroid26.25
Tongue25.5
Tonsil88.8
Trachea33.5
TrigeminalGanglion7.65
Uterus158.45
UterusCorpus19.35
WholeBlood29.3
Wholebrain11.15
colon20.15
pineal_day79.8
pineal_night70.36
retina31.5
small_intestine9.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P16762
  • 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
Amygdala10.02 ± 0.15
Basal Forebrain9.99 ± 0.26
Basal Part of Pons9.8 ± 0.19
Cerebellar Cortex10.1 ± 0.12
Cerebellar Nuclei9.95 ± 0.13
Claustrum10.14 ± 0.25
Epithalamus10.17 ± 0.36
Frontal Lobe9.9 ± 0.19
Globus Pallidus10.32 ± 0.17
Hypothalamus10.04 ± 0.11
Insula9.98 ± 0.17
Limbic Lobe10.03 ± 0.18
Mesencephalon10.03 ± 0.19
Myelencephalon10.02 ± 0.19
Occipital Lobe10.15 ± 0.21
Parietal Lobe9.95 ± 0.18
Pontine Tegmentum10 ± 0.2
Striatum10.15 ± 0.23
Subthalamus9.81 ± 0.09
Temporal Lobe9.98 ± 0.16
Thalamus9.97 ± 0.12
White Matter10.74 ± 0.14
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00067769 17 683 699 FTNMLGQPGSTALDLFK Peptide Atlas

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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