AutismKB 2.0

Annotation Detail for CPSF2


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Basic Information Top
Gene Symbol:CPSF2 ( CPSF100,KIAA1367 )
Gene Full Name: cleavage and polyadenylation specific factor 2, 100kDa
Band: 14q32.12
Quick LinksEntrez ID:53981; OMIM: 606028; Uniprot ID:CPSF2_HUMAN; ENSEMBL ID: ENSG00000165934; HGNC ID: 2325
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 body3 / 7076142
blastocyst6 / 6231996
fetus23 / 56401240
neonate1 / 3109732
infant1 / 2362042
juvenile1 / 5555617
adult86 / 193912144
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) tumor4 / 9417842
cervical tumor3 / 3436687
chondrosarcoma4 / 8282348
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor22 / 26384583
glioma1 / 1068839
head and neck tumor11 / 13630280
kidney tumor1 / 6895914
leukemia1 / 9584210
liver tumor4 / 9635941
lung tumor1 / 1031279
lymphoma1 / 7175513
non-neoplasia2 / 9725020
normal129 / 336030738
ovarian tumor4 / 7668252
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer11 / 102680107
retinoblastoma2 / 4635643
skin tumor4 / 12494932
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites5 / 40015124
bladder3 / 29757100
blood4 / 12347832
bone2 / 7165527
bone marrow0 / 488010 
brain43 / 110098939
cervix3 / 4817162
connective tissue5 / 14925533
ear0 / 162120 
embryonic tissue12 / 21572255
esophagus0 / 202090 
eye8 / 21105437
heart0 / 896260 
intestine1 / 2344724
kidney8 / 21177737
larynx4 / 24145165
liver7 / 20774333
lung5 / 33697414
lymph0 / 442700 
lymph node9 / 9161098
mammary gland4 / 15327126
mouth5 / 6705274
muscle3 / 10771527
nerve0 / 157680 
ovary4 / 10205139
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland1 / 1658560
placenta19 / 28082567
prostate13 / 18934568
salivary gland0 / 201550 
skin7 / 21057433
spleen2 / 5395237
stomach2 / 9661920
testis35 / 330442105
thymus9 / 81131110
thyroid3 / 4747363
tonsil0 / 169990 
trachea8 / 52413152
umbilical cord0 / 136800 
uterus12 / 23287851
vascular2 / 5178038
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P99837
  • 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
Amygdala6.04 ± 0.34
Basal Forebrain6.12 ± 0.22
Basal Part of Pons5.9 ± 0.22
Cerebellar Cortex6.01 ± 0.2
Cerebellar Nuclei6.39 ± 0.31
Claustrum6.2 ± 0.42
Epithalamus6.44 ± 0.16
Frontal Lobe6.16 ± 0.28
Globus Pallidus6.75 ± 0.26
Hypothalamus6.08 ± 0.14
Insula6.15 ± 0.31
Limbic Lobe6.04 ± 0.29
Mesencephalon6.22 ± 0.31
Myelencephalon6.14 ± 0.29
Occipital Lobe6.1 ± 0.24
Parietal Lobe6.09 ± 0.25
Pontine Tegmentum6.17 ± 0.32
Striatum6.23 ± 0.27
Subthalamus6.18 ± 0.08
Temporal Lobe6.11 ± 0.25
Thalamus6.12 ± 0.27
White Matter6.81 ± 0.12
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Cpsf2CBCerebellum41.79
69.99
Cpsf2CTXCerebral cortex100
100
Cpsf2HIPHippocampal region71.36
100
Cpsf2HPFHippocampal formation75.18
100
Cpsf2HYHypothalamus100
100
Cpsf2LSXLateral septal complex100
100
Cpsf2MBMidbrain100
100
Cpsf2MYMedulla100
100
Cpsf2OLFOlfactory bulb87.6
96.21
Cpsf2PPons100
100
Cpsf2PALPallidum90.2
100
Cpsf2RHPRetrohippocampal region81.78
84.09
Cpsf2sAMYStriatum-like amygdalar nuclei74.82
81.99
Cpsf2STRStriatum80.29
72.23
Cpsf2STRdStriatum dorsal region69.74
59.29
Cpsf2STRvStriatum ventral region98.54
83.12
Cpsf2THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
CPSF2_HUMAN_552 8 552 559 IINQMKPR PRIDE
PAp00003439 13 307 319 HLSLCHGLSDLAR 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