AutismKB 2.0

Annotation Detail for CA12


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Basic Information Top
Gene Symbol:CA12 ( CAXII,FLJ20151,HsT18816 )
Gene Full Name: carbonic anhydrase XII
Band: 15q22.2
Quick LinksEntrez ID:771; OMIM: 603263; Uniprot ID:CAH12_HUMAN; ENSEMBL ID: ENSG00000074410; HGNC ID: 1371
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 body2 / 7076128
blastocyst1 / 6231916
fetus14 / 56401224
neonate0 / 310970 
infant1 / 2362042
juvenile0 / 555560 
adult140 / 193912172
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) tumor28 / 94178297
cervical tumor0 / 343660 
chondrosarcoma23 / 82823277
colorectal tumor22 / 114246192
esophageal tumor1 / 1729057
gastrointestinal tumor3 / 11936925
germ cell tumor4 / 26384515
glioma7 / 10688365
head and neck tumor21 / 136302154
kidney tumor5 / 6895972
leukemia0 / 958420 
liver tumor4 / 9635941
lung tumor12 / 103127116
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal187 / 336030755
ovarian tumor2 / 7668226
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma51 / 463561100
skin tumor2 / 12494916
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor8 / 9025788
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder4 / 29757134
blood0 / 1234780 
bone20 / 71655279
bone marrow2 / 4880140
brain64 / 110098958
cervix7 / 48171145
connective tissue8 / 14925553
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus2 / 2020998
eye63 / 211054298
heart0 / 896260 
intestine48 / 234472204
kidney86 / 211777406
larynx1 / 2414541
liver7 / 20774333
lung22 / 33697465
lymph0 / 442700 
lymph node0 / 916100 
mammary gland33 / 153271215
mouth17 / 67052253
muscle5 / 10771546
nerve0 / 157680 
ovary2 / 10205119
pancreas8 / 21481237
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta7 / 28082524
prostate5 / 18934526
salivary gland0 / 201550 
skin11 / 21057452
spleen0 / 539520 
stomach2 / 9661920
testis1 / 3304423
thymus2 / 8113124
thyroid5 / 47473105
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus16 / 23287868
vascular8 / 51780154
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 214164_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.6
Adipocyte47.65
AdrenalCortex3.75
Adrenalgland3.1
Amygdala4.05
Appendix3.65
AtrioventricularNode2.7
BDCA4+_DentriticCells4.15
Bonemarrow3.65
BronchialEpithelialCells222.8
CD105+_Endothelial3.75
CD14+_Monocytes3.95
CD19+_BCells(neg._sel.)3.95
CD33+_Myeloid4.85
CD34+4.7
CD4+_Tcells4.1
CD56+_NKCells4.45
CD71+_EarlyErythroid3.45
CD8+_Tcells3.55
CardiacMyocytes4.65
Caudatenucleus221.4
Cerebellum3.05
CerebellumPeduncles4.2
CiliaryGanglion2.55
CingulateCortex3.75
Colorectaladenocarcinoma3.7
DorsalRootGanglion2.75
FetalThyroid3.6
Fetalbrain3.75
Fetalliver3.15
Fetallung4.65
GlobusPallidus2.7
Heart4.65
Hypothalamus10.3
Kidney651.15
Leukemia_chronicMyelogenousK-5623.3
Leukemia_promyelocytic-HL-603.25
Leukemialymphoblastic(MOLT-4)3.05
Liver4.8
Lung4.15
Lymphnode3.25
Lymphoma_burkitts(Daudi)4.7
Lymphoma_burkitts(Raji)5.1
MedullaOblongata29.6
OccipitalLobe3.35
OlfactoryBulb2.9
Ovary2.45
Pancreas30.1
PancreaticIslet57.8
ParietalLobe3.85
Pituitary7.3
Placenta3.9
Pons3.6
PrefrontalCortex4.7
Prostate7.45
Salivarygland3
SkeletalMuscle4.2
Skin52.35
SmoothMuscle356.85
Spinalcord3.9
SubthalamicNucleus3.3
SuperiorCervicalGanglion4.15
TemporalLobe3.4
Testis3.2
TestisGermCell3.15
TestisIntersitial3.1
TestisLeydigCell3.65
TestisSeminiferousTubule3.25
Thalamus29.9
Thymus2.9
Thyroid4.75
Tongue70.1
Tonsil8.5
Trachea3.35
TrigeminalGanglion3.65
Uterus6.45
UterusCorpus39.95
WholeBlood4
Wholebrain3.25
colon680.15
pineal_day4.7
pineal_night26.62
retina40.225
small_intestine4.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_5_PI416408490
  • 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 ± 1.05
Basal Forebrain5.06 ± 0.47
Basal Part of Pons4.18 ± 1.34
Cerebellar Cortex3.99 ± 0.39
Cerebellar Nuclei4.04 ± 1.12
Claustrum5.31 ± 0.84
Epithalamus3.53 ± 1.55
Frontal Lobe4.12 ± 1.12
Globus Pallidus5.3 ± 0.44
Hypothalamus4.01 ± 0.86
Insula3.68 ± 1.29
Limbic Lobe4.49 ± 1.25
Mesencephalon5.03 ± 0.92
Myelencephalon4.63 ± 1.34
Occipital Lobe4.7 ± 1.31
Parietal Lobe4.55 ± 1.26
Pontine Tegmentum4.53 ± 1.07
Striatum7.27 ± 0.79
Subthalamus4.35 ± 1.49
Temporal Lobe4.38 ± 1.09
Thalamus5.18 ± 0.67
White Matter4.6 ± 0.78
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Car12CBCerebellum8.48
11.37
Car12CTXCerebral cortex19.78
14.07
Car12HIPHippocampal region49.95
81.56
Car12HPFHippocampal formation38.85
55.91
Car12HYHypothalamus1.15
0.93
Car12LSXLateral septal complex13.78
11.8
Car12MBMidbrain1.97
1.84
Car12MYMedulla10.69
14.24
Car12OLFOlfactory bulb33.39
26.53
Car12PPons2.26
2.2
Car12PALPallidum7.49
6.2
Car12RHPRetrohippocampal region21.15
18.95
Car12sAMYStriatum-like amygdalar nuclei10.23
9.19
Car12STRStriatum83.2
60.95
Car12STRdStriatum dorsal region97.33
72.76
Car12STRvStriatum ventral region100
67.72
Car12THThalamus3.86
6.36
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00848643 28 241 268 NPVQISQEQLLALETALYCTHMDDPSPR 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