AutismKB 2.0

Annotation Detail for KBTBD12


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Basic Information Top
Gene Symbol:KBTBD12 ( DKFZp779E2271,FLJ46299,KLHDC6 )
Gene Full Name: kelch repeat and BTB (POZ) domain containing 12
Band: 3q21.3
Quick LinksEntrez ID:166348; OMIM: NA; Uniprot ID:KBTBC_HUMAN; ENSEMBL ID: ENSG00000187715; HGNC ID: 25731
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 
fetus1 / 5640121
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult3 / 19391211
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 
normal13 / 33603073
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 
brain3 / 11009892
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine0 / 2344720 
kidney2 / 2117779
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle2 / 10771518
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis5 / 33044215
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus1 / 2328784
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P441530
  • 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
Amygdala5.91 ± 0.47
Basal Forebrain5.16 ± 0.31
Basal Part of Pons5.4 ± 0.34
Cerebellar Cortex5.55 ± 0.37
Cerebellar Nuclei4.74 ± 0.46
Claustrum4.92 ± 0.91
Epithalamus4.89 ± 0.34
Frontal Lobe5.03 ± 0.53
Globus Pallidus4.61 ± 0.49
Hypothalamus4.75 ± 0.51
Insula5.01 ± 0.35
Limbic Lobe5.49 ± 0.62
Mesencephalon4.99 ± 0.61
Myelencephalon5.06 ± 0.5
Occipital Lobe5.78 ± 0.61
Parietal Lobe5.33 ± 0.45
Pontine Tegmentum5.06 ± 0.58
Striatum5.1 ± 0.49
Subthalamus4.79 ± 0.24
Temporal Lobe5.16 ± 0.51
Thalamus4.98 ± 0.48
White Matter3.87 ± 0.51
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
4933428M03RikCBCerebellum0.6
1
4933428M03RikCTXCerebral cortex0.35
0.75
4933428M03RikHIPHippocampal region0.3
0.29
4933428M03RikHPFHippocampal formation0.3
0.3
4933428M03RikHYHypothalamus0.04
0.04
4933428M03RikLSXLateral septal complex0.08
0.07
4933428M03RikMBMidbrain0.14
0.26
4933428M03RikMYMedulla0.24
0.29
4933428M03RikOLFOlfactory bulb0.9
1.72
4933428M03RikPPons0.17
0.34
4933428M03RikPALPallidum0.02
0.04
4933428M03RikRHPRetrohippocampal region0.33
0.33
4933428M03RiksAMYStriatum-like amygdalar nuclei0.02
0
4933428M03RikSTRStriatum0.09
0.12
4933428M03RikSTRdStriatum dorsal region0.07
0.11
4933428M03RikSTRvStriatum ventral region0.25
0.26
4933428M03RikTHThalamus0.14
0.17
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