AutismKB 2.0

Annotation Detail for KCTD13


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Basic Information Top
Gene Symbol:KCTD13 ( PDIP1,POLDIP1,hBACURD1 )
Gene Full Name: potassium channel tetramerisation domain containing 13
Band: 16p11.2
Quick LinksEntrez ID:253980; OMIM: 608947; Uniprot ID:BACD1_HUMAN; ENSEMBL ID: ENSG00000174943; HGNC ID: 22234
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 body1 / 7076114
blastocyst1 / 6231916
fetus22 / 56401239
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult33 / 193912117
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma3 / 17475171
breast (mammary gland) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor11 / 26384541
glioma1 / 1068839
head and neck tumor2 / 13630214
kidney tumor1 / 6895914
leukemia6 / 9584262
liver tumor0 / 963590 
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal67 / 336030719
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites1 / 4001524
bladder3 / 29757100
blood4 / 12347832
bone1 / 7165513
bone marrow0 / 488010 
brain23 / 110098920
cervix0 / 481710 
connective tissue1 / 1492556
ear2 / 16212123
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye4 / 21105418
heart2 / 8962622
intestine5 / 23447221
kidney3 / 21177714
larynx0 / 241450 
liver0 / 2077430 
lung5 / 33697414
lymph0 / 442700 
lymph node4 / 9161043
mammary gland6 / 15327139
mouth1 / 6705214
muscle0 / 1077150 
nerve0 / 157680 
ovary1 / 1020519
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta2 / 2808257
prostate1 / 1893455
salivary gland1 / 2015549
skin1 / 2105744
spleen1 / 5395218
stomach0 / 966190 
testis9 / 33044227
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus4 / 23287817
vascular0 / 517800 
Microarray in BioGPS Top
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  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 45653_at
Cell line Expression level Expression bar
721_B_lymphoblasts11.5
Adipocyte9.3
AdrenalCortex10.95
Adrenalgland9.1
Amygdala71.05
Appendix10.3
AtrioventricularNode7.9
BDCA4+_DentriticCells10.35
Bonemarrow10
BronchialEpithelialCells8.75
CD105+_Endothelial9.3
CD14+_Monocytes10.95
CD19+_BCells(neg._sel.)12.45
CD33+_Myeloid13.45
CD34+12.7
CD4+_Tcells11.7
CD56+_NKCells14.3
CD71+_EarlyErythroid9
CD8+_Tcells10.7
CardiacMyocytes12.5
Caudatenucleus29.45
Cerebellum10.45
CerebellumPeduncles26.35
CiliaryGanglion7.75
CingulateCortex27
Colorectaladenocarcinoma12.65
DorsalRootGanglion7.8
FetalThyroid9.55
Fetalbrain29.45
Fetalliver8.9
Fetallung7.9
GlobusPallidus10.2
Heart12.8
Hypothalamus16.7
Kidney8
Leukemia_chronicMyelogenousK-56210.9
Leukemia_promyelocytic-HL-609.1
Leukemialymphoblastic(MOLT-4)8.5
Liver13.7
Lung11.2
Lymphnode9.95
Lymphoma_burkitts(Daudi)14.25
Lymphoma_burkitts(Raji)15.75
MedullaOblongata25.05
OccipitalLobe12.9
OlfactoryBulb8.2
Ovary6.9
Pancreas7.65
PancreaticIslet10.7
ParietalLobe16
Pituitary16.65
Placenta11.1
Pons10.45
PrefrontalCortex114.65
Prostate11.1
Salivarygland7.3
SkeletalMuscle11.7
Skin7.9
SmoothMuscle10.4
Spinalcord10.85
SubthalamicNucleus13.9
SuperiorCervicalGanglion11.25
TemporalLobe12.75
Testis176.65
TestisGermCell177.05
TestisIntersitial51.85
TestisLeydigCell46.35
TestisSeminiferousTubule93.35
Thalamus11.55
Thymus8.7
Thyroid11.35
Tongue10.15
Tonsil10.2
Trachea7.3
TrigeminalGanglion10.45
Uterus8.95
UterusCorpus9.35
WholeBlood11.8
Wholebrain39.75
colon8.85
pineal_day49.5
pineal_night52.76
retina13.3
small_intestine8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_1477_PI416261804
  • 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
Amygdala6.78 ± 0.53
Basal Forebrain6.4 ± 0.14
Basal Part of Pons6.13 ± 0.42
Cerebellar Cortex6.06 ± 0.38
Cerebellar Nuclei5.97 ± 0.37
Claustrum6.82 ± 0.71
Epithalamus5.77 ± 0.41
Frontal Lobe6.01 ± 0.43
Globus Pallidus6.25 ± 0.42
Hypothalamus5.99 ± 0.47
Insula6.02 ± 0.38
Limbic Lobe6.62 ± 0.46
Mesencephalon6.1 ± 0.49
Myelencephalon6.2 ± 0.46
Occipital Lobe6.47 ± 0.5
Parietal Lobe6.26 ± 0.47
Pontine Tegmentum6.11 ± 0.44
Striatum6.67 ± 0.43
Subthalamus5.74 ± 0.24
Temporal Lobe6.18 ± 0.39
Thalamus5.87 ± 0.41
White Matter7.02 ± 0.44
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Kctd13CBCerebellum6.64
9.28
Kctd13CTXCerebral cortex13.14
10.91
Kctd13HIPHippocampal region17.08
28.69
Kctd13HPFHippocampal formation13.93
20.06
Kctd13HYHypothalamus1.66
1.49
Kctd13LSXLateral septal complex3.71
3.12
Kctd13MBMidbrain2.88
2.6
Kctd13MYMedulla3.74
3.71
Kctd13OLFOlfactory bulb13.76
12.29
Kctd13PPons2.47
2.39
Kctd13PALPallidum2.25
2.6
Kctd13RHPRetrohippocampal region8.66
8.3
Kctd13sAMYStriatum-like amygdalar nuclei3.94
3.38
Kctd13STRStriatum3.35
3.26
Kctd13STRdStriatum dorsal region2.87
3.33
Kctd13STRvStriatum ventral region4.86
3.35
Kctd13THThalamus3.12
2.49
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