AutismKB 2.0

Annotation Detail for KCTD1


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Basic Information Top
Gene Symbol:KCTD1 ( C18orf5 )
Gene Full Name: potassium channel tetramerisation domain containing 1
Band: 18q11.2
Quick LinksEntrez ID:284252; OMIM: 613420; Uniprot ID:KCTD1_HUMAN; ENSEMBL ID: ENSG00000134504; HGNC ID: 18249
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 body4 / 7076156
blastocyst2 / 6231932
fetus14 / 56401224
neonate0 / 310970 
infant0 / 236200 
juvenile3 / 5555653
adult48 / 193912124
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) tumor2 / 9417821
cervical tumor1 / 3436629
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor4 / 26384515
glioma5 / 10688346
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia3 / 9584231
liver tumor0 / 963590 
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal97 / 336030728
ovarian tumor1 / 7668213
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor6 / 9025766
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 
blood3 / 12347824
bone3 / 7165541
bone marrow0 / 488010 
brain22 / 110098919
cervix1 / 4817120
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue6 / 21572227
esophagus0 / 202090 
eye9 / 21105442
heart5 / 8962655
intestine1 / 2344724
kidney8 / 21177737
larynx1 / 2414541
liver2 / 2077439
lung15 / 33697444
lymph0 / 442700 
lymph node3 / 9161032
mammary gland2 / 15327113
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary1 / 1020519
pancreas8 / 21481237
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta14 / 28082549
prostate0 / 1893450 
salivary gland0 / 201550 
skin5 / 21057423
spleen0 / 539520 
stomach2 / 9661920
testis7 / 33044221
thymus1 / 8113112
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus9 / 23287838
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_23_P130343
  • 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
Amygdala9.98 ± 0.62
Basal Forebrain9.61 ± 0.46
Basal Part of Pons9.38 ± 0.25
Cerebellar Cortex9.53 ± 0.11
Cerebellar Nuclei9.4 ± 0.58
Claustrum10.48 ± 0.29
Epithalamus10.06 ± 0.54
Frontal Lobe10 ± 0.48
Globus Pallidus8.19 ± 0.82
Hypothalamus9.19 ± 0.41
Insula10.05 ± 0.25
Limbic Lobe10.16 ± 0.79
Mesencephalon9.61 ± 0.38
Myelencephalon9.82 ± 0.5
Occipital Lobe10.17 ± 0.57
Parietal Lobe10.09 ± 0.5
Pontine Tegmentum9.96 ± 0.39
Striatum10.84 ± 0.33
Subthalamus9.33 ± 0.19
Temporal Lobe9.94 ± 0.42
Thalamus9.45 ± 0.34
White Matter7.96 ± 0.52
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Kctd1CBCerebellum20.67
57.09
Kctd1CTXCerebral cortex88.12
90.15
Kctd1HIPHippocampal region35.45
52.7
Kctd1HPFHippocampal formation30.92
38.7
Kctd1HYHypothalamus3.04
2.58
Kctd1LSXLateral septal complex10.34
9.22
Kctd1MBMidbrain7.23
7
Kctd1MYMedulla10.1
11.71
Kctd1OLFOlfactory bulb35.87
43.08
Kctd1PPons7.89
9.23
Kctd1PALPallidum10.36
9.88
Kctd1RHPRetrohippocampal region24.75
22.48
Kctd1sAMYStriatum-like amygdalar nuclei10.48
9.33
Kctd1STRStriatum95.48
90.05
Kctd1STRdStriatum dorsal region100
99.3
Kctd1STRvStriatum ventral region100
94.54
Kctd1THThalamus10.39
10.11
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