AutismKB 2.0

Annotation Detail for CAMSAP1


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Basic Information Top
Gene Symbol:CAMSAP1 ( DKFZp434F195,DKFZp434G2311,FLJ31228,MGC163452,PRO2405,bA100C15.1 )
Gene Full Name: calmodulin regulated spectrin-associated protein 1
Band: 9q34.3
Quick LinksEntrez ID:157922; OMIM: NA; Uniprot ID:CAMP1_HUMAN; ENSEMBL ID: ENSG00000130559; HGNC ID: 19946
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 body6 / 7076184
blastocyst10 / 62319160
fetus44 / 56401278
neonate0 / 310970 
infant4 / 23620169
juvenile0 / 555560 
adult116 / 193912159
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma2 / 17475114
breast (mammary gland) tumor1 / 9417810
cervical tumor3 / 3436687
chondrosarcoma11 / 82823132
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor19 / 26384572
glioma14 / 106883130
head and neck tumor1 / 1363027
kidney tumor3 / 6895943
leukemia8 / 9584283
liver tumor2 / 9635920
lung tumor7 / 10312767
lymphoma1 / 7175513
non-neoplasia2 / 9725020
normal227 / 336030767
ovarian tumor7 / 7668291
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer2 / 10268019
retinoblastoma3 / 4635664
skin tumor1 / 1249498
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder2 / 2975767
blood8 / 12347864
bone6 / 7165583
bone marrow0 / 488010 
brain48 / 110098943
cervix3 / 4817162
connective tissue5 / 14925533
ear0 / 162120 
embryonic tissue24 / 215722111
esophagus0 / 202090 
eye42 / 211054199
heart4 / 8962644
intestine5 / 23447221
kidney7 / 21177733
larynx0 / 241450 
liver7 / 20774333
lung23 / 33697468
lymph1 / 4427022
lymph node4 / 9161043
mammary gland8 / 15327152
mouth1 / 6705214
muscle3 / 10771527
nerve1 / 1576863
ovary9 / 10205188
pancreas8 / 21481237
parathyroid2 / 2053997
pharynx0 / 413280 
pituitary gland4 / 16585241
placenta4 / 28082514
prostate6 / 18934531
salivary gland0 / 201550 
skin9 / 21057442
spleen2 / 5395237
stomach0 / 966190 
testis9 / 33044227
thymus3 / 8113136
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus12 / 23287851
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 220410_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.4
Adipocyte5.1
AdrenalCortex5.8
Adrenalgland4.45
Amygdala5.3
Appendix5.5
AtrioventricularNode4.45
BDCA4+_DentriticCells5.55
Bonemarrow5.4
BronchialEpithelialCells5.1
CD105+_Endothelial5.35
CD14+_Monocytes5.6
CD19+_BCells(neg._sel.)5.45
CD33+_Myeloid6.6
CD34+7.65
CD4+_Tcells7
CD56+_NKCells5.95
CD71+_EarlyErythroid4.9
CD8+_Tcells5.15
CardiacMyocytes7.75
Caudatenucleus4.65
Cerebellum4.2
CerebellumPeduncles5.95
CiliaryGanglion4.05
CingulateCortex5.3
Colorectaladenocarcinoma5.15
DorsalRootGanglion4.55
FetalThyroid5.05
Fetalbrain5.15
Fetalliver4.5
Fetallung4.1
GlobusPallidus3.95
Heart7.4
Hypothalamus5.45
Kidney4.3
Leukemia_chronicMyelogenousK-5624.7
Leukemia_promyelocytic-HL-604.6
Leukemialymphoblastic(MOLT-4)4.05
Liver7.3
Lung5.7
Lymphnode4.3
Lymphoma_burkitts(Daudi)6.75
Lymphoma_burkitts(Raji)7.7
MedullaOblongata4.65
OccipitalLobe4.6
OlfactoryBulb4.05
Ovary3.6
Pancreas4.25
PancreaticIslet5.55
ParietalLobe5.55
Pituitary6
Placenta5.2
Pons4.95
PrefrontalCortex6.55
Prostate6.1
Salivarygland4.25
SkeletalMuscle6.7
Skin4.3
SmoothMuscle5.85
Spinalcord5.5
SubthalamicNucleus4.85
SuperiorCervicalGanglion6.55
TemporalLobe4.75
Testis4.45
TestisGermCell4.15
TestisIntersitial4.35
TestisLeydigCell5.2
TestisSeminiferousTubule4.45
Thalamus5.3
Thymus4.05
Thyroid6.3
Tongue5.45
Tonsil5.1
Trachea4.3
TrigeminalGanglion6.05
Uterus4.15
UterusCorpus4.85
WholeBlood5.65
Wholebrain4.3
colon5.25
pineal_day8.06
pineal_night7.74
retina15.4
small_intestine5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P175460
  • 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
Amygdala6.12 ± 0.49
Basal Forebrain6.13 ± 0.43
Basal Part of Pons6.27 ± 0.35
Cerebellar Cortex6.29 ± 0.2
Cerebellar Nuclei5.38 ± 0.46
Claustrum5.66 ± 0.51
Epithalamus5.62 ± 0.33
Frontal Lobe5.98 ± 0.42
Globus Pallidus4.45 ± 0.57
Hypothalamus5.9 ± 0.42
Insula6.2 ± 0.48
Limbic Lobe6.08 ± 0.51
Mesencephalon5.71 ± 0.54
Myelencephalon5.84 ± 0.53
Occipital Lobe5.8 ± 0.54
Parietal Lobe5.89 ± 0.48
Pontine Tegmentum5.86 ± 0.46
Striatum5.8 ± 0.39
Subthalamus5.82 ± 0.43
Temporal Lobe6.12 ± 0.39
Thalamus6.03 ± 0.37
White Matter5.17 ± 0.23
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Camsap1CBCerebellum0.26
0.42
Camsap1CTXCerebral cortex0.3
0.32
Camsap1HIPHippocampal region0.85
0.71
Camsap1HPFHippocampal formation0.68
0.62
Camsap1HYHypothalamus0.1
0.15
Camsap1LSXLateral septal complex0.05
0.06
Camsap1MBMidbrain0.29
0.47
Camsap1MYMedulla0.75
0.95
Camsap1OLFOlfactory bulb1.04
0.74
Camsap1PPons0.44
0.54
Camsap1PALPallidum0.12
0.08
Camsap1RHPRetrohippocampal region0.42
0.48
Camsap1sAMYStriatum-like amygdalar nuclei0
0
Camsap1STRStriatum0.08
0.17
Camsap1STRdStriatum dorsal region0.07
0.12
Camsap1STRvStriatum ventral region0.14
0.42
Camsap1THThalamus0.11
0.16
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00042603 18 1474 1491 SNKPIIHNAISHCCLAGK 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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