AutismKB 2.0

Annotation Detail for CPSF1


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Basic Information Top
Gene Symbol:CPSF1 ( CPSF160,HSU37012,P/cl.18 )
Gene Full Name: cleavage and polyadenylation specific factor 1, 160kDa
Band: 8q24.3
Quick LinksEntrez ID:29894; OMIM: 606027; Uniprot ID:CPSF1_HUMAN; ENSEMBL ID: ENSG00000071894; HGNC ID: 2324
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 body17 / 70761240
blastocyst7 / 62319112
fetus45 / 56401279
neonate0 / 310970 
infant0 / 236200 
juvenile3 / 5555653
adult166 / 193912185
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor11 / 94178116
cervical tumor1 / 3436629
chondrosarcoma6 / 8282372
colorectal tumor16 / 114246140
esophageal tumor1 / 1729057
gastrointestinal tumor4 / 11936933
germ cell tumor14 / 26384553
glioma11 / 106883102
head and neck tumor16 / 136302117
kidney tumor9 / 68959130
leukemia24 / 95842250
liver tumor3 / 9635931
lung tumor23 / 103127223
lymphoma6 / 7175583
non-neoplasia1 / 9725010
normal211 / 336030762
ovarian tumor17 / 76682221
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS16 / 125680127
prostate cancer5 / 10268048
retinoblastoma7 / 46356151
skin tumor3 / 12494924
soft tissue/muscle tissue tumor13 / 125191103
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites1 / 4001524
bladder0 / 297570 
blood12 / 12347897
bone5 / 7165569
bone marrow5 / 48801102
brain37 / 110098933
cervix4 / 4817183
connective tissue6 / 14925540
ear1 / 1621261
embryonic tissue36 / 215722166
esophagus1 / 2020949
eye18 / 21105485
heart5 / 8962655
intestine25 / 234472106
kidney16 / 21177775
larynx11 / 24145455
liver11 / 20774352
lung40 / 336974118
lymph4 / 4427090
lymph node20 / 91610218
mammary gland11 / 15327171
mouth2 / 6705229
muscle6 / 10771555
nerve5 / 15768317
ovary21 / 102051205
pancreas14 / 21481265
parathyroid7 / 20539340
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta10 / 28082535
prostate10 / 18934552
salivary gland0 / 201550 
skin8 / 21057437
spleen2 / 5395237
stomach11 / 96619113
testis21 / 33044263
thymus4 / 8113149
thyroid6 / 47473126
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus17 / 23287872
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 33132_at
Cell line Expression level Expression bar
721_B_lymphoblasts52.7
Adipocyte9.95
AdrenalCortex11.35
Adrenalgland8.75
Amygdala16.25
Appendix9
AtrioventricularNode6.5
BDCA4+_DentriticCells36.75
Bonemarrow10.65
BronchialEpithelialCells9.6
CD105+_Endothelial68.75
CD14+_Monocytes23.15
CD19+_BCells(neg._sel.)28.1
CD33+_Myeloid30.9
CD34+86.35
CD4+_Tcells58.85
CD56+_NKCells34.85
CD71+_EarlyErythroid30.35
CD8+_Tcells62.05
CardiacMyocytes10.7
Caudatenucleus9.25
Cerebellum8.15
CerebellumPeduncles11.4
CiliaryGanglion5.75
CingulateCortex11.1
Colorectaladenocarcinoma21.6
DorsalRootGanglion6.6
FetalThyroid13.25
Fetalbrain10.85
Fetalliver11.2
Fetallung16.05
GlobusPallidus7.85
Heart16.3
Hypothalamus11.3
Kidney7.85
Leukemia_chronicMyelogenousK-56230.6
Leukemia_promyelocytic-HL-6013.1
Leukemialymphoblastic(MOLT-4)69.05
Liver16.5
Lung18.6
Lymphnode11.3
Lymphoma_burkitts(Daudi)22.15
Lymphoma_burkitts(Raji)20.75
MedullaOblongata9.2
OccipitalLobe8.35
OlfactoryBulb8.15
Ovary5.2
Pancreas13.2
PancreaticIslet10.45
ParietalLobe10.65
Pituitary11.25
Placenta9.5
Pons9.6
PrefrontalCortex13.2
Prostate17
Salivarygland7.55
SkeletalMuscle12.3
Skin6.1
SmoothMuscle9.9
Spinalcord10.85
SubthalamicNucleus9.8
SuperiorCervicalGanglion9.45
TemporalLobe8.45
Testis33.55
TestisGermCell42.15
TestisIntersitial19.6
TestisLeydigCell16.1
TestisSeminiferousTubule33.9
Thalamus10.8
Thymus14.75
Thyroid18.05
Tongue9.7
Tonsil10.45
Trachea8.05
TrigeminalGanglion7.6
Uterus9
UterusCorpus8.65
WholeBlood10.55
Wholebrain8.1
colon10.6
pineal_day17.8
pineal_night15.24
retina11.675
small_intestine12.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_5507_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
Amygdala6.59 ± 0.57
Basal Forebrain6.33 ± 0.17
Basal Part of Pons6.18 ± 0.25
Cerebellar Cortex6.43 ± 0.4
Cerebellar Nuclei6.54 ± 0.46
Claustrum6.65 ± 0.64
Epithalamus5.87 ± 0.31
Frontal Lobe6.15 ± 0.4
Globus Pallidus6.38 ± 0.37
Hypothalamus6.15 ± 0.33
Insula6.13 ± 0.28
Limbic Lobe6.36 ± 0.45
Mesencephalon6.36 ± 0.47
Myelencephalon6.31 ± 0.47
Occipital Lobe6.64 ± 0.45
Parietal Lobe6.33 ± 0.38
Pontine Tegmentum6.28 ± 0.42
Striatum6.37 ± 0.43
Subthalamus6.01 ± 0.5
Temporal Lobe6.17 ± 0.44
Thalamus6.34 ± 0.36
White Matter6.62 ± 0.23
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Cpsf1CBCerebellum28.62
35.13
Cpsf1CTXCerebral cortex66.05
54.82
Cpsf1HIPHippocampal region43.39
67.15
Cpsf1HPFHippocampal formation44.1
61.3
Cpsf1HYHypothalamus32.36
27.43
Cpsf1LSXLateral septal complex58.21
42.39
Cpsf1MBMidbrain43.49
41.21
Cpsf1MYMedulla22.82
22.86
Cpsf1OLFOlfactory bulb53.54
43.3
Cpsf1PPons21.07
21.62
Cpsf1PALPallidum24.67
21.49
Cpsf1RHPRetrohippocampal region45.69
54.74
Cpsf1sAMYStriatum-like amygdalar nuclei11.31
8.05
Cpsf1STRStriatum29.68
21.49
Cpsf1STRdStriatum dorsal region25.45
18.53
Cpsf1STRvStriatum ventral region40.56
28.44
Cpsf1THThalamus45.23
41.58
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
CPSF1_HUMAN_1383 7 1383 1389 MLHVDRR PRIDE
PAp00009701 13 1020 1032 CTAHYVAYHVESK 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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