AutismKB 2.0

Annotation Detail for THUMPD1


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Basic Information Top
Gene Symbol:THUMPD1 ( DKFZp686C1054 )
Gene Full Name: THUMP domain containing 1
Band: 16p12.3
Quick LinksEntrez ID:55623; OMIM: NA; Uniprot ID:THUM1_HUMAN; ENSEMBL ID: ENSG00000066654; HGNC ID: 23807
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
blastocyst4 / 6231964
fetus41 / 56401272
neonate2 / 3109764
infant3 / 23620127
juvenile7 / 55556125
adult93 / 193912147
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma2 / 17475114
breast (mammary gland) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor4 / 11424635
esophageal tumor2 / 17290115
gastrointestinal tumor1 / 1193698
germ cell tumor16 / 26384560
glioma5 / 10688346
head and neck tumor8 / 13630258
kidney tumor3 / 6895943
leukemia3 / 9584231
liver tumor6 / 9635962
lung tumor5 / 10312748
lymphoma4 / 7175555
non-neoplasia5 / 9725051
normal203 / 336030760
ovarian tumor6 / 7668278
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer4 / 10268038
retinoblastoma0 / 463560 
skin tumor3 / 12494924
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites1 / 4001524
bladder4 / 29757134
blood3 / 12347824
bone0 / 716550 
bone marrow3 / 4880161
brain71 / 110098964
cervix1 / 4817120
connective tissue7 / 14925546
ear0 / 162120 
embryonic tissue16 / 21572274
esophagus2 / 2020998
eye8 / 21105437
heart2 / 8962622
intestine12 / 23447251
kidney10 / 21177747
larynx0 / 241450 
liver10 / 20774348
lung14 / 33697441
lymph0 / 442700 
lymph node7 / 9161076
mammary gland3 / 15327119
mouth8 / 67052119
muscle7 / 10771564
nerve0 / 157680 
ovary6 / 10205158
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx6 / 41328145
pituitary gland1 / 1658560
placenta18 / 28082564
prostate15 / 18934579
salivary gland0 / 201550 
skin4 / 21057418
spleen6 / 53952111
stomach5 / 9661951
testis26 / 33044278
thymus6 / 8113173
thyroid1 / 4747321
tonsil0 / 169990 
trachea5 / 5241395
umbilical cord2 / 13680146
uterus13 / 23287855
vascular10 / 51780193
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 206555_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts210.95
Adipocyte20.35
AdrenalCortex19.8
Adrenalgland11.5
Amygdala31.8
Appendix19.15
AtrioventricularNode12.6
BDCA4+_DentriticCells99.05
Bonemarrow12.9
BronchialEpithelialCells27.9
CD105+_Endothelial63.25
CD14+_Monocytes62.35
CD19+_BCells(neg._sel.)213.85
CD33+_Myeloid187.3
CD34+201.35
CD4+_Tcells244.25
CD56+_NKCells230.95
CD71+_EarlyErythroid15.65
CD8+_Tcells201.6
CardiacMyocytes23.2
Caudatenucleus12.35
Cerebellum10.8
CerebellumPeduncles17.3
CiliaryGanglion11.6
CingulateCortex23
Colorectaladenocarcinoma15.6
DorsalRootGanglion11.75
FetalThyroid34.85
Fetalbrain15.65
Fetalliver13
Fetallung12.9
GlobusPallidus13.15
Heart18.6
Hypothalamus17.6
Kidney11.35
Leukemia_chronicMyelogenousK-56228.65
Leukemia_promyelocytic-HL-6012.4
Leukemialymphoblastic(MOLT-4)11.75
Liver18.15
Lung12.95
Lymphnode16.55
Lymphoma_burkitts(Daudi)30.25
Lymphoma_burkitts(Raji)22.9
MedullaOblongata14.7
OccipitalLobe20.55
OlfactoryBulb12.95
Ovary11.55
Pancreas13.45
PancreaticIslet31
ParietalLobe20.35
Pituitary42.05
Placenta12.1
Pons14.3
PrefrontalCortex93.5
Prostate95.55
Salivarygland12.1
SkeletalMuscle19
Skin13.85
SmoothMuscle21.3
Spinalcord11.5
SubthalamicNucleus14.95
SuperiorCervicalGanglion18.5
TemporalLobe14.35
Testis9.15
TestisGermCell49.1
TestisIntersitial18.55
TestisLeydigCell17.95
TestisSeminiferousTubule23.05
Thalamus12.65
Thymus10.95
Thyroid42.25
Tongue15.95
Tonsil27.25
Trachea18.65
TrigeminalGanglion15.85
Uterus89.75
UterusCorpus13.85
WholeBlood12.75
Wholebrain11.7
colon49.05
pineal_day80.36
pineal_night57.36
retina18.875
small_intestine19.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P90878
  • 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
Amygdala5.94 ± 0.28
Basal Forebrain5.69 ± 0.27
Basal Part of Pons5.72 ± 0.22
Cerebellar Cortex5.85 ± 0.21
Cerebellar Nuclei5.46 ± 0.43
Claustrum5.96 ± 0.52
Epithalamus5.81 ± 0.29
Frontal Lobe5.56 ± 0.36
Globus Pallidus5.36 ± 0.41
Hypothalamus5.77 ± 0.24
Insula5.7 ± 0.34
Limbic Lobe5.59 ± 0.44
Mesencephalon5.57 ± 0.43
Myelencephalon5.59 ± 0.35
Occipital Lobe5.82 ± 0.42
Parietal Lobe5.66 ± 0.35
Pontine Tegmentum5.65 ± 0.33
Striatum5.65 ± 0.27
Subthalamus5.32 ± 0.72
Temporal Lobe5.59 ± 0.31
Thalamus5.56 ± 0.3
White Matter5.7 ± 0.29
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Thumpd1CBCerebellum0.36
1.03
Thumpd1CTXCerebral cortex0.66
0.73
Thumpd1HIPHippocampal region9.22
8.95
Thumpd1HPFHippocampal formation7.17
6.74
Thumpd1HYHypothalamus3.46
3.29
Thumpd1LSXLateral septal complex0.21
0.23
Thumpd1MBMidbrain0.66
1.38
Thumpd1MYMedulla1.29
1.91
Thumpd1OLFOlfactory bulb7.45
6.49
Thumpd1PPons5.31
7.7
Thumpd1PALPallidum3.64
3.89
Thumpd1RHPRetrohippocampal region3.32
3.07
Thumpd1sAMYStriatum-like amygdalar nuclei3.63
3.23
Thumpd1STRStriatum1.79
1.46
Thumpd1STRdStriatum dorsal region0.52
0.37
Thumpd1STRvStriatum ventral region6.55
4.92
Thumpd1THThalamus0.55
0.63
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00004215 22 56 77 KCVEEAYSLLNEYGDDMYGPEK Peptide Atlas
THUM1_HUMAN_140 11 140 150 LVHHILQDMYK PRIDE
THUM1_HUMAN_2 15 2 16 AAPAQQTTQPGGGKR PRIDE

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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