AutismKB 2.0

Annotation Detail for KLHL28


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Basic Information Top
Gene Symbol:KLHL28 ( BTBD5,FLJ20081 )
Gene Full Name: kelch-like 28 (Drosophila)
Band: 14q21.2
Quick LinksEntrez ID:54813; OMIM: NA; Uniprot ID:KLH28_HUMAN; ENSEMBL ID: ENSG00000179454; HGNC ID: 19741
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 body2 / 7076128
blastocyst1 / 6231916
fetus23 / 56401240
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult38 / 193912119
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) tumor1 / 9417810
cervical tumor1 / 3436629
chondrosarcoma1 / 8282312
colorectal tumor1 / 1142468
esophageal tumor3 / 17290173
gastrointestinal tumor2 / 11936916
germ cell tumor3 / 26384511
glioma0 / 1068830 
head and neck tumor12 / 13630288
kidney tumor2 / 6895929
leukemia1 / 9584210
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal93 / 336030727
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer4 / 10268038
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites0 / 400150 
bladder1 / 2975733
blood1 / 1234788
bone1 / 7165513
bone marrow3 / 4880161
brain23 / 110098920
cervix1 / 4817120
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue11 / 21572250
esophagus3 / 20209148
eye3 / 21105414
heart0 / 896260 
intestine4 / 23447217
kidney5 / 21177723
larynx0 / 241450 
liver2 / 2077439
lung1 / 3369742
lymph0 / 442700 
lymph node5 / 9161054
mammary gland8 / 15327152
mouth11 / 67052164
muscle3 / 10771527
nerve0 / 157680 
ovary0 / 1020510 
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta6 / 28082521
prostate5 / 18934526
salivary gland0 / 201550 
skin3 / 21057414
spleen1 / 5395218
stomach3 / 9661931
testis9 / 33044227
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus3 / 23287812
vascular1 / 5178019
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_2188_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
Amygdala6.76 ± 0.45
Basal Forebrain7.13 ± 0.19
Basal Part of Pons7.16 ± 0.43
Cerebellar Cortex7.66 ± 0.19
Cerebellar Nuclei7.31 ± 0.21
Claustrum6.93 ± 0.62
Epithalamus7.59 ± 0.45
Frontal Lobe7.39 ± 0.33
Globus Pallidus6.8 ± 0.3
Hypothalamus7.51 ± 0.24
Insula7.29 ± 0.35
Limbic Lobe7.04 ± 0.54
Mesencephalon7.21 ± 0.47
Myelencephalon7.14 ± 0.49
Occipital Lobe6.86 ± 0.58
Parietal Lobe7.21 ± 0.45
Pontine Tegmentum7.25 ± 0.47
Striatum6.62 ± 0.41
Subthalamus7.22 ± 0.67
Temporal Lobe7.27 ± 0.38
Thalamus7.09 ± 0.44
White Matter7.81 ± 0.33
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Btbd5CBCerebellum7.79
9.47
Btbd5CTXCerebral cortex30.43
24.04
Btbd5HIPHippocampal region17.99
23.23
Btbd5HPFHippocampal formation13.99
16.15
Btbd5HYHypothalamus2.35
2.28
Btbd5LSXLateral septal complex6.57
4.99
Btbd5MBMidbrain8.06
8.82
Btbd5MYMedulla4.44
5.59
Btbd5OLFOlfactory bulb20.6
16.77
Btbd5PPons3.2
5.12
Btbd5PALPallidum2.73
2.67
Btbd5RHPRetrohippocampal region5.73
4.71
Btbd5sAMYStriatum-like amygdalar nuclei4.16
4
Btbd5STRStriatum5.35
4.37
Btbd5STRdStriatum dorsal region4.77
3.91
Btbd5STRvStriatum ventral region7.13
5.32
Btbd5THThalamus12.45
12.42
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