AutismKB 2.0

Annotation Detail for KLHL17


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Basic Information Top
Gene Symbol:KLHL17 ( RP11-54O7.6 )
Gene Full Name: kelch-like 17 (Drosophila)
Band: 1p36.33
Quick LinksEntrez ID:339451; OMIM: NA; Uniprot ID:KLH17_HUMAN; ENSEMBL ID: ENSG00000187961; HGNC ID: 24023
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 
fetus5 / 5640128
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult31 / 193912115
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 
chondrosarcoma4 / 8282348
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor3 / 13630222
kidney tumor0 / 689590 
leukemia2 / 9584220
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma3 / 7175541
non-neoplasia0 / 972500 
normal38 / 336030711
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor1 / 1249498
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 
ascites3 / 4001574
bladder0 / 297570 
blood0 / 1234780 
bone2 / 7165527
bone marrow2 / 4880140
brain10 / 11009899
cervix4 / 4817183
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye14 / 21105466
heart0 / 896260 
intestine2 / 2344728
kidney1 / 2117774
larynx0 / 241450 
liver0 / 2077430 
lung3 / 3369748
lymph0 / 442700 
lymph node3 / 9161032
mammary gland0 / 1532710 
mouth1 / 6705214
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland1 / 2015549
skin1 / 2105744
spleen0 / 539520 
stomach3 / 9661931
testis2 / 3304426
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus2 / 2328788
vascular1 / 5178019
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P359110
  • 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
Amygdala2.65 ± 0.83
Basal Forebrain2.4 ± 0.63
Basal Part of Pons2.24 ± 0.37
Cerebellar Cortex2.77 ± 0.63
Cerebellar Nuclei2.49 ± 0.66
Claustrum2.92 ± 0.66
Epithalamus2.24 ± 0.85
Frontal Lobe2.37 ± 0.76
Globus Pallidus2.08 ± 0.53
Hypothalamus2.31 ± 0.55
Insula2.17 ± 0.46
Limbic Lobe2.36 ± 0.65
Mesencephalon2.45 ± 0.75
Myelencephalon2.46 ± 0.65
Occipital Lobe2.5 ± 0.65
Parietal Lobe2.58 ± 0.71
Pontine Tegmentum2.43 ± 0.79
Striatum2.1 ± 0.78
Subthalamus2.48 ± 0.72
Temporal Lobe2.39 ± 0.68
Thalamus2.47 ± 0.94
White Matter1.78 ± 0.25
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Klhl17CBCerebellum27.59
28.04
Klhl17CTXCerebral cortex61.69
38.59
Klhl17HIPHippocampal region41.37
49.39
Klhl17HPFHippocampal formation46.31
44.56
Klhl17HYHypothalamus42.34
29.65
Klhl17LSXLateral septal complex32.24
18.58
Klhl17MBMidbrain50.06
39.09
Klhl17MYMedulla43.09
39.93
Klhl17OLFOlfactory bulb64.66
46.97
Klhl17PPons40.55
36.49
Klhl17PALPallidum43.09
31.15
Klhl17RHPRetrohippocampal region53.13
39.19
Klhl17sAMYStriatum-like amygdalar nuclei40.65
25.09
Klhl17STRStriatum32.39
20.12
Klhl17STRdStriatum dorsal region25.47
15.88
Klhl17STRvStriatum ventral region51.93
30.95
Klhl17THThalamus45
32.87
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