AutismKB 2.0

Annotation Detail for KLHL13


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Basic Information Top
Gene Symbol:KLHL13 ( BKLHD2,FLJ10262,MGC74791 )
Gene Full Name: kelch-like 13 (Drosophila)
Band: Xq24
Quick LinksEntrez ID:90293; OMIM: 300655; Uniprot ID:KLH13_HUMAN; ENSEMBL ID: ENSG00000003096; HGNC ID: 22931
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 
fetus33 / 56401258
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult52 / 193912126
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 tumor2 / 3436658
chondrosarcoma2 / 8282324
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor38 / 263845144
glioma0 / 1068830 
head and neck tumor1 / 1363027
kidney tumor2 / 6895929
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal101 / 336030730
ovarian tumor2 / 7668226
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor1 / 9025711
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 
bone2 / 7165527
bone marrow2 / 4880140
brain68 / 110098961
cervix2 / 4817141
connective tissue4 / 14925526
ear1 / 1621261
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye7 / 21105433
heart3 / 8962633
intestine0 / 2344720 
kidney6 / 21177728
larynx0 / 241450 
liver1 / 2077434
lung3 / 3369748
lymph0 / 442700 
lymph node0 / 916100 
mammary gland3 / 15327119
mouth1 / 6705214
muscle0 / 1077150 
nerve1 / 1576863
ovary2 / 10205119
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate2 / 18934510
salivary gland0 / 201550 
skin3 / 21057414
spleen1 / 5395218
stomach0 / 966190 
testis33 / 33044299
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea5 / 5241395
umbilical cord0 / 136800 
uterus9 / 23287838
vascular2 / 5178038
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_11290_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
Amygdala7.39 ± 0.55
Basal Forebrain7.92 ± 0.47
Basal Part of Pons8 ± 0.41
Cerebellar Cortex7.04 ± 0.21
Cerebellar Nuclei7.36 ± 0.54
Claustrum6.6 ± 0.77
Epithalamus7.76 ± 0.29
Frontal Lobe7.36 ± 0.55
Globus Pallidus7.95 ± 0.54
Hypothalamus7.71 ± 0.39
Insula7.31 ± 0.3
Limbic Lobe7.34 ± 0.9
Mesencephalon7.99 ± 0.88
Myelencephalon7.46 ± 0.67
Occipital Lobe7.63 ± 0.72
Parietal Lobe7.01 ± 0.44
Pontine Tegmentum7.2 ± 0.61
Striatum9.6 ± 0.87
Subthalamus7.62 ± 0.23
Temporal Lobe7.12 ± 0.36
Thalamus8.01 ± 0.59
White Matter6.45 ± 0.41
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Klhl13CBCerebellum2.65
2.91
Klhl13CTXCerebral cortex2.47
1.97
Klhl13HIPHippocampal region3.66
3.77
Klhl13HPFHippocampal formation3.02
2.78
Klhl13HYHypothalamus2.79
4.27
Klhl13LSXLateral septal complex1.86
1.46
Klhl13MBMidbrain3.8
4.18
Klhl13MYMedulla2.42
2.82
Klhl13OLFOlfactory bulb7.03
6.15
Klhl13PPons1.94
2.49
Klhl13PALPallidum8.92
8.94
Klhl13RHPRetrohippocampal region2.17
1.61
Klhl13sAMYStriatum-like amygdalar nuclei18.84
16.46
Klhl13STRStriatum16.36
12.55
Klhl13STRdStriatum dorsal region18.13
13.73
Klhl13STRvStriatum ventral region13.87
10.58
Klhl13THThalamus1.23
1.16
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