AutismKB 2.0

Annotation Detail for TBC1D30


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Basic Information Top
Gene Symbol:TBC1D30 ( KIAA0984 )
Gene Full Name: TBC1 domain family, member 30
Band: 12q14.3
Quick LinksEntrez ID:23329; OMIM: NA; Uniprot ID:B9A6M9_HUMAN; ENSEMBL ID: ENSG00000111490; HGNC ID: 29164
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 body0 / 707610 
blastocyst0 / 623190 
fetus20 / 56401235
neonate0 / 310970 
infant1 / 2362042
juvenile0 / 555560 
adult16 / 19391218
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) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor3 / 26384511
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor2 / 6895929
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal69 / 336030720
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain36 / 110098932
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye2 / 2110549
heart0 / 896260 
intestine5 / 23447221
kidney2 / 2117779
larynx0 / 241450 
liver3 / 20774314
lung5 / 33697414
lymph0 / 442700 
lymph node0 / 916100 
mammary gland1 / 1532716
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary1 / 1020519
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis2 / 3304426
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus2 / 2328788
vascular1 / 5178019
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P206050
  • 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
Amygdala5.25 ± 0.46
Basal Forebrain4.52 ± 0.34
Basal Part of Pons5.82 ± 0.53
Cerebellar Cortex4.89 ± 0.62
Cerebellar Nuclei4.89 ± 0.59
Claustrum4.88 ± 0.78
Epithalamus3.92 ± 1.18
Frontal Lobe4.94 ± 0.7
Globus Pallidus3.91 ± 0.56
Hypothalamus4.49 ± 0.79
Insula4.96 ± 0.3
Limbic Lobe5.42 ± 0.55
Mesencephalon4.88 ± 0.67
Myelencephalon4.98 ± 0.73
Occipital Lobe5.57 ± 0.56
Parietal Lobe5.19 ± 0.62
Pontine Tegmentum4.89 ± 0.5
Striatum5.23 ± 0.55
Subthalamus5.55 ± 0.11
Temporal Lobe4.88 ± 0.59
Thalamus4.95 ± 0.51
White Matter2.89 ± 0.42
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
4930505D03RikCBCerebellum1.65
2.2
4930505D03RikCTXCerebral cortex17.68
15.03
4930505D03RikHIPHippocampal region2.59
3.34
4930505D03RikHPFHippocampal formation3.47
3.71
4930505D03RikHYHypothalamus0.11
0.26
4930505D03RikLSXLateral septal complex0.98
1.25
4930505D03RikMBMidbrain0.7
0.99
4930505D03RikMYMedulla2.17
2.7
4930505D03RikOLFOlfactory bulb6.37
7.27
4930505D03RikPPons1.24
1.75
4930505D03RikPALPallidum0.55
0.48
4930505D03RikRHPRetrohippocampal region5.37
4.59
4930505D03RiksAMYStriatum-like amygdalar nuclei0.72
0.7
4930505D03RikSTRStriatum2.89
2.55
4930505D03RikSTRdStriatum dorsal region1.63
1.29
4930505D03RikSTRvStriatum ventral region11.29
9.64
4930505D03RikTHThalamus0.78
0.95
Peptide Top

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