AutismKB 2.0

Annotation Detail for KCNQ5


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Basic Information Top
Gene Symbol:KCNQ5 ( Kv7.5 )
Gene Full Name: potassium voltage-gated channel, KQT-like subfamily, member 5
Band: 6q13
Quick LinksEntrez ID:56479; OMIM: 607357; Uniprot ID:KCNQ5_HUMAN; ENSEMBL ID: ENSG00000185760; HGNC ID: 6299
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 
fetus10 / 56401217
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult24 / 193912112
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 
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor1 / 2638453
glioma0 / 1068830 
head and neck tumor2 / 13630214
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal39 / 336030711
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma3 / 4635664
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor2 / 12519115
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 
bone1 / 7165513
bone marrow0 / 488010 
brain34 / 110098930
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye4 / 21105418
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver1 / 2077434
lung1 / 3369742
lymph0 / 442700 
lymph node1 / 9161010
mammary gland1 / 1532716
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach1 / 9661910
testis1 / 3304423
thymus0 / 811310 
thyroid2 / 4747342
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_403_PI416408490
  • 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
Amygdala7.26 ± 0.59
Basal Forebrain6.42 ± 0.52
Basal Part of Pons8.31 ± 0.27
Cerebellar Cortex5.13 ± 0.67
Cerebellar Nuclei5.49 ± 0.71
Claustrum7.35 ± 0.84
Epithalamus5.03 ± 1.22
Frontal Lobe6.2 ± 0.97
Globus Pallidus3.95 ± 2.23
Hypothalamus5.72 ± 0.67
Insula5.72 ± 1.04
Limbic Lobe6.86 ± 1.12
Mesencephalon5.79 ± 1.02
Myelencephalon6.23 ± 1.17
Occipital Lobe7.16 ± 0.8
Parietal Lobe6.84 ± 0.81
Pontine Tegmentum5.9 ± 0.81
Striatum7.35 ± 0.63
Subthalamus5.13 ± 0.68
Temporal Lobe6.15 ± 0.85
Thalamus5.08 ± 0.87
White Matter3.9 ± 1.42
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Kcnq5CBCerebellum15.07
21.58
Kcnq5CTXCerebral cortex100
100
Kcnq5HIPHippocampal region46.88
86.5
Kcnq5HPFHippocampal formation46.43
64.88
Kcnq5HYHypothalamus12.85
10.78
Kcnq5LSXLateral septal complex35.73
32.26
Kcnq5MBMidbrain11.91
11.99
Kcnq5MYMedulla18.72
21.7
Kcnq5OLFOlfactory bulb53.13
55.21
Kcnq5PPons13.88
14.53
Kcnq5PALPallidum26.39
25.93
Kcnq5RHPRetrohippocampal region48.28
42.85
Kcnq5sAMYStriatum-like amygdalar nuclei33.43
29.25
Kcnq5STRStriatum89.96
80.19
Kcnq5STRdStriatum dorsal region97.28
87.44
Kcnq5STRvStriatum ventral region100
100
Kcnq5THThalamus12.95
12.55
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
KCNQ5_HUMAN_392 12 392 403 MASPRGQSIKSR PRIDE
PAp00001727 14 684 697 DLSGSAQNSGCLSR 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