AutismKB 2.0

Annotation Detail for KCTD12


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Basic Information Top
Gene Symbol:KCTD12 ( C13orf2,FLJ33073,KIAA1778,PFET1,PFETIN )
Gene Full Name: potassium channel tetramerisation domain containing 12
Band: 13q22.3
Quick LinksEntrez ID:115207; OMIM: 610521; Uniprot ID:KCD12_HUMAN; ENSEMBL ID: ENSG00000178695; HGNC ID: 14678
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 body9 / 70761127
blastocyst0 / 623190 
fetus200 / 564012354
neonate0 / 310970 
infant1 / 2362042
juvenile2 / 5555635
adult123 / 193912163
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 
chondrosarcoma6 / 8282372
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor1 / 2638453
glioma5 / 10688346
head and neck tumor12 / 13630288
kidney tumor3 / 6895943
leukemia3 / 9584231
liver tumor2 / 9635920
lung tumor1 / 1031279
lymphoma2 / 7175527
non-neoplasia6 / 9725061
normal427 / 3360307127
ovarian tumor16 / 76682208
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer2 / 10268019
retinoblastoma1 / 4635621
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor8 / 9025788
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue3 / 13106228
adrenal gland2 / 3319760
ascites0 / 400150 
bladder0 / 297570 
blood6 / 12347848
bone2 / 7165527
bone marrow2 / 4880140
brain69 / 110098962
cervix2 / 4817141
connective tissue12 / 14925580
ear114 / 162127031
embryonic tissue37 / 215722171
esophagus0 / 202090 
eye15 / 21105471
heart10 / 89626111
intestine8 / 23447234
kidney19 / 21177789
larynx1 / 2414541
liver3 / 20774314
lung27 / 33697480
lymph0 / 442700 
lymph node1 / 9161010
mammary gland3 / 15327119
mouth5 / 6705274
muscle8 / 10771574
nerve4 / 15768253
ovary17 / 102051166
pancreas13 / 21481260
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland1 / 1658560
placenta41 / 280825145
prostate4 / 18934521
salivary gland0 / 201550 
skin1 / 2105744
spleen4 / 5395274
stomach4 / 9661941
testis8 / 33044224
thymus1 / 8113112
thyroid8 / 47473168
tonsil0 / 169990 
trachea5 / 5241395
umbilical cord0 / 136800 
uterus17 / 23287872
vascular15 / 51780289
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212192_at
Cell line Expression level Expression bar
721_B_lymphoblasts8
Adipocyte77.95
AdrenalCortex18.9
Adrenalgland40.85
Amygdala455.3
Appendix337.5
AtrioventricularNode41.1
BDCA4+_DentriticCells645.1
Bonemarrow26.05
BronchialEpithelialCells317.7
CD105+_Endothelial36.15
CD14+_Monocytes1424
CD19+_BCells(neg._sel.)10.1
CD33+_Myeloid2036.9
CD34+77.7
CD4+_Tcells7.8
CD56+_NKCells24.1
CD71+_EarlyErythroid9.25
CD8+_Tcells7.05
CardiacMyocytes173.65
Caudatenucleus172.8
Cerebellum272.5
CerebellumPeduncles155.95
CiliaryGanglion69
CingulateCortex24.6
Colorectaladenocarcinoma7.4
DorsalRootGanglion232.55
FetalThyroid37.7
Fetalbrain1278.5
Fetalliver20.65
Fetallung583.4
GlobusPallidus20.4
Heart22.2
Hypothalamus352.05
Kidney23.7
Leukemia_chronicMyelogenousK-5627.6
Leukemia_promyelocytic-HL-606.15
Leukemialymphoblastic(MOLT-4)6.25
Liver10.35
Lung47.4
Lymphnode451.05
Lymphoma_burkitts(Daudi)9.2
Lymphoma_burkitts(Raji)12.9
MedullaOblongata35.3
OccipitalLobe128.25
OlfactoryBulb639.35
Ovary44.1
Pancreas16.9
PancreaticIslet143.9
ParietalLobe32.1
Pituitary107
Placenta410.75
Pons13.6
PrefrontalCortex233.95
Prostate68.65
Salivarygland67.1
SkeletalMuscle17.5
Skin72.35
SmoothMuscle1308.1
Spinalcord557.9
SubthalamicNucleus39
SuperiorCervicalGanglion36.35
TemporalLobe31.15
Testis13.4
TestisGermCell271.95
TestisIntersitial33.75
TestisLeydigCell72.65
TestisSeminiferousTubule75
Thalamus152.8
Thymus54.55
Thyroid404.85
Tongue57.4
Tonsil89.8
Trachea297.6
TrigeminalGanglion16.05
Uterus902.05
UterusCorpus48.45
WholeBlood974.5
Wholebrain138.9
colon585.2
pineal_day835.86
pineal_night568
retina391.375
small_intestine770.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P377957
  • 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
Amygdala6.85 ± 0.69
Basal Forebrain7.3 ± 0.35
Basal Part of Pons6.55 ± 0.63
Cerebellar Cortex7.78 ± 0.34
Cerebellar Nuclei7.37 ± 0.33
Claustrum5.93 ± 0.58
Epithalamus7.55 ± 0.29
Frontal Lobe7.34 ± 0.48
Globus Pallidus8.27 ± 0.61
Hypothalamus7.38 ± 0.34
Insula7.53 ± 0.43
Limbic Lobe7.53 ± 0.52
Mesencephalon7.52 ± 0.42
Myelencephalon7.33 ± 0.61
Occipital Lobe6.8 ± 0.39
Parietal Lobe7.03 ± 0.45
Pontine Tegmentum7.45 ± 0.47
Striatum7.57 ± 0.7
Subthalamus7.51 ± 0.53
Temporal Lobe7.31 ± 0.44
Thalamus7.54 ± 0.39
White Matter6.96 ± 0.77
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Kctd12CBCerebellum17.6
83.33
Kctd12CTXCerebral cortex8.85
9.58
Kctd12HIPHippocampal region52.28
93.71
Kctd12HPFHippocampal formation38.38
66.54
Kctd12HYHypothalamus2.73
2.88
Kctd12LSXLateral septal complex35.91
39.84
Kctd12MBMidbrain4.12
4.62
Kctd12MYMedulla3.14
6.57
Kctd12OLFOlfactory bulb31.13
38.62
Kctd12PPons2.51
3.49
Kctd12PALPallidum11.33
12.01
Kctd12RHPRetrohippocampal region20.17
22.99
Kctd12sAMYStriatum-like amygdalar nuclei18.54
19.01
Kctd12STRStriatum19.06
16.96
Kctd12STRdStriatum dorsal region14.06
11.87
Kctd12STRvStriatum ventral region27.99
22.81
Kctd12THThalamus5.65
8.78
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
KCD12_HUMAN_0 0 0 0 DLQLVLPDYFPER PRIDE
KCD12_HUMAN_0 0 0 0 EAEYFELPELVR PRIDE
KCD12_HUMAN_0 0 0 0 EVFGDTLNESR PRIDE
KCD12_HUMAN_0 0 0 0 LGAPQQPGPGPPPSR PRIDE
KCD12_HUMAN_115 12 115 126 EAEYFELPELVR PRIDE
KCD12_HUMAN_115 13 115 127 EAEYFELPELVRR PRIDE
KCD12_HUMAN_127 16 127 142 RLGAPQQPGPGPPPSR PRIDE
KCD12_HUMAN_128 15 128 142 LGAPQQPGPGPPPSR PRIDE
KCD12_HUMAN_128 16 128 143 LGAPQQPGPGPPPSRR PRIDE
KCD12_HUMAN_184 22 184 205 SPSGGAAGPLLTPSQSLDGSRR PRIDE
KCD12_HUMAN_235 22 235 256 ITVCGKTSLAKEVFGDTLNESR PRIDE
KCD12_HUMAN_274 10 274 283 FNFLEQAFDK PRIDE
KCD12_HUMAN_62 12 62 73 MFTQQQPQELAR PRIDE
KCD12_HUMAN_97 13 97 109 DLQLVLPDYFPER PRIDE
PAp00009719 13 50 62 CTVVSVPDSLLWR Peptide Atlas

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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