AutismKB 2.0

Annotation Detail for KCNIP3


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Basic Information Top
Gene Symbol:KCNIP3 ( CSEN,DREAM,KCHIP3,MGC18289 )
Gene Full Name: Kv channel interacting protein 3, calsenilin
Band: 2q11.1
Quick LinksEntrez ID:30818; OMIM: 604662; Uniprot ID:CSEN_HUMAN; ENSEMBL ID: ENSG00000115041; HGNC ID: 15523
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 
fetus12 / 56401221
neonate0 / 310970 
infant3 / 23620127
juvenile0 / 555560 
adult35 / 193912118
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 tumor1 / 1193698
germ cell tumor5 / 26384518
glioma12 / 106883112
head and neck tumor2 / 13630214
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor3 / 10312729
lymphoma0 / 717550 
non-neoplasia4 / 9725041
normal64 / 336030719
ovarian tumor1 / 7668213
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor2 / 9025722
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 
brain59 / 110098953
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye1 / 2110544
heart0 / 896260 
intestine1 / 2344724
kidney6 / 21177728
larynx0 / 241450 
liver0 / 2077430 
lung5 / 33697414
lymph0 / 442700 
lymph node0 / 916100 
mammary gland1 / 1532716
mouth2 / 6705229
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas4 / 21481218
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta3 / 28082510
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach1 / 9661910
testis4 / 33044212
thymus2 / 8113124
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus2 / 2328788
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_11026_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
Amygdala5.9 ± 0.6
Basal Forebrain4.88 ± 0.63
Basal Part of Pons4.51 ± 0.53
Cerebellar Cortex4.51 ± 0.54
Cerebellar Nuclei4.79 ± 0.39
Claustrum5.08 ± 0.62
Epithalamus5.43 ± 0.46
Frontal Lobe5.29 ± 0.55
Globus Pallidus4.83 ± 0.7
Hypothalamus4.26 ± 0.66
Insula5.29 ± 0.39
Limbic Lobe5.68 ± 0.64
Mesencephalon5.07 ± 0.73
Myelencephalon5.18 ± 0.78
Occipital Lobe6 ± 0.76
Parietal Lobe5.48 ± 0.64
Pontine Tegmentum5.38 ± 0.64
Striatum4.3 ± 1.27
Subthalamus4.64 ± 0.55
Temporal Lobe5.41 ± 0.45
Thalamus4.64 ± 0.69
White Matter3.75 ± 0.62
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Kcnip3CBCerebellum51.81
64.93
Kcnip3CTXCerebral cortex100
100
Kcnip3HIPHippocampal region46.39
76.72
Kcnip3HPFHippocampal formation70.28
98.18
Kcnip3HYHypothalamus16.91
13.73
Kcnip3LSXLateral septal complex39.79
33.49
Kcnip3MBMidbrain23.17
19.83
Kcnip3MYMedulla20.63
20.15
Kcnip3OLFOlfactory bulb96.5
100
Kcnip3PPons24.99
24.61
Kcnip3PALPallidum22.32
18.85
Kcnip3RHPRetrohippocampal region95.74
97.65
Kcnip3sAMYStriatum-like amygdalar nuclei34.24
25.98
Kcnip3STRStriatum80.88
72.61
Kcnip3STRdStriatum dorsal region83.48
76.97
Kcnip3STRvStriatum ventral region89.12
80.5
Kcnip3THThalamus65.94
67.12
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