AutismKB 2.0

Annotation Detail for KLHL8


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Basic Information Top
Gene Symbol:KLHL8 ( FLJ46304,KIAA1378 )
Gene Full Name: kelch-like 8 (Drosophila)
Band: 4q22.1
Quick LinksEntrez ID:57563; OMIM: 611967; Uniprot ID:KLHL8_HUMAN; ENSEMBL ID: ENSG00000145332; HGNC ID: 18644
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 
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 carcinoma1 / 1747557
breast (mammary gland) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor4 / 11424635
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor3 / 26384511
glioma0 / 1068830 
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal52 / 336030715
ovarian tumor5 / 7668265
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma2 / 4635643
skin tumor1 / 1249498
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow2 / 4880140
brain13 / 110098911
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye7 / 21105433
heart1 / 8962611
intestine4 / 23447217
kidney5 / 21177723
larynx0 / 241450 
liver1 / 2077434
lung2 / 3369745
lymph0 / 442700 
lymph node4 / 9161043
mammary gland5 / 15327132
mouth1 / 6705214
muscle2 / 10771518
nerve0 / 157680 
ovary5 / 10205148
pancreas3 / 21481213
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta2 / 2808257
prostate2 / 18934510
salivary gland0 / 201550 
skin1 / 2105744
spleen0 / 539520 
stomach2 / 9661920
testis5 / 33044215
thymus3 / 8113136
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus4 / 23287817
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_P328729
  • 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
Amygdala4.9 ± 0.51
Basal Forebrain5.02 ± 0.4
Basal Part of Pons5.2 ± 0.34
Cerebellar Cortex5.19 ± 0.26
Cerebellar Nuclei4.9 ± 0.47
Claustrum4.65 ± 0.66
Epithalamus4.84 ± 0.6
Frontal Lobe5.01 ± 0.42
Globus Pallidus4.3 ± 0.47
Hypothalamus4.99 ± 0.51
Insula5.08 ± 0.27
Limbic Lobe5.02 ± 0.43
Mesencephalon5.05 ± 0.47
Myelencephalon4.94 ± 0.5
Occipital Lobe5.28 ± 0.42
Parietal Lobe5.11 ± 0.43
Pontine Tegmentum4.96 ± 0.47
Striatum4.43 ± 0.45
Subthalamus5.27 ± 0.46
Temporal Lobe5.17 ± 0.35
Thalamus4.86 ± 0.41
White Matter4.48 ± 0.21
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Klhl8CBCerebellum1.45
1.55
Klhl8CTXCerebral cortex0.5
0.55
Klhl8HIPHippocampal region1.31
1.13
Klhl8HPFHippocampal formation0.89
0.79
Klhl8HYHypothalamus0.37
0.4
Klhl8LSXLateral septal complex0.09
0.04
Klhl8MBMidbrain0.28
0.4
Klhl8MYMedulla2.15
3.04
Klhl8OLFOlfactory bulb0.79
1.29
Klhl8PPons0.58
1.4
Klhl8PALPallidum0.27
0.28
Klhl8RHPRetrohippocampal region0.27
0.38
Klhl8sAMYStriatum-like amygdalar nuclei0.17
0.18
Klhl8STRStriatum0.29
0.27
Klhl8STRdStriatum dorsal region0.28
0.29
Klhl8STRvStriatum ventral region0.37
0.27
Klhl8THThalamus0.61
0.61
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
KLHL8_HUMAN_2 11 2 12 ASDSMSSKQAR PRIDE

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