AutismKB 2.0

Annotation Detail for KBTBD13


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Basic Information Top
Gene Symbol:KBTBD13 ( HCG1645727 )
Gene Full Name: kelch repeat and BTB (POZ) domain containing 13
Band: 15q22.31
Quick LinksEntrez ID:390594; OMIM: NA; Uniprot ID:KBTBD_HUMAN; ENSEMBL ID: ENSG00000234438; HGNC ID: 37227
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 
fetus0 / 5640120 
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult4 / 19391212
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal5 / 33603071
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
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 
brain0 / 11009890 
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx1 / 2414541
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle4 / 10771537
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_91_PI416573500
  • 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
Amygdala4.89 ± 0.85
Basal Forebrain4.41 ± 0.63
Basal Part of Pons4.75 ± 0.53
Cerebellar Cortex4.32 ± 0.64
Cerebellar Nuclei4.71 ± 0.64
Claustrum5.27 ± 0.89
Epithalamus3.97 ± 0.47
Frontal Lobe4.35 ± 0.58
Globus Pallidus5.17 ± 0.53
Hypothalamus4.25 ± 0.49
Insula4.12 ± 0.41
Limbic Lobe4.62 ± 0.6
Mesencephalon4.56 ± 0.72
Myelencephalon4.59 ± 0.7
Occipital Lobe4.55 ± 0.82
Parietal Lobe4.64 ± 0.7
Pontine Tegmentum4.44 ± 0.72
Striatum4.72 ± 0.64
Subthalamus4.84 ± 0.08
Temporal Lobe4.45 ± 0.7
Thalamus4.6 ± 0.61
White Matter5.12 ± 0.55
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
5430433E21RikCBCerebellum2.43
3.3
5430433E21RikCTXCerebral cortex2.96
2.33
5430433E21RikHIPHippocampal region3.23
3.44
5430433E21RikHPFHippocampal formation3.09
2.89
5430433E21RikHYHypothalamus0.5
0.37
5430433E21RikLSXLateral septal complex0.06
0
5430433E21RikMBMidbrain0.97
1.21
5430433E21RikMYMedulla2.93
3.71
5430433E21RikOLFOlfactory bulb2.97
3.78
5430433E21RikPPons2.61
3.45
5430433E21RikPALPallidum0.38
0.33
5430433E21RikRHPRetrohippocampal region2.96
2.21
5430433E21RiksAMYStriatum-like amygdalar nuclei0.64
0.44
5430433E21RikSTRStriatum0.3
0.25
5430433E21RikSTRdStriatum dorsal region0.28
0.23
5430433E21RikSTRvStriatum ventral region0.14
0.14
5430433E21RikTHThalamus1.75
1.54
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