AutismKB 2.0

Annotation Detail for KLHL31


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Basic Information Top
Gene Symbol:KLHL31 ( BKLHD6,KBTBD1,KLHL,bA345L23.2 )
Gene Full Name: kelch-like 31 (Drosophila)
Band: 6p12.1
Quick LinksEntrez ID:401265; OMIM: 610749; Uniprot ID:KLH31_HUMAN; ENSEMBL ID: ENSG00000124743; HGNC ID: 21353
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 
fetus6 / 56401210
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult11 / 19391215
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 tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal27 / 33603078
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor0 / 902570 
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 marrow0 / 488010 
brain2 / 11009891
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart2 / 8962622
intestine0 / 2344720 
kidney1 / 2117774
larynx1 / 2414541
liver7 / 20774333
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth2 / 6705229
muscle9 / 10771583
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate2 / 18934510
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
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_1135_PI416379584
  • 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
Amygdala2.56 ± 1.13
Basal Forebrain2.26 ± 0.31
Basal Part of Pons2.14 ± 0.68
Cerebellar Cortex1.71 ± 0.39
Cerebellar Nuclei2.39 ± 0.77
Claustrum2.8 ± 0.73
Epithalamus1.88 ± 0.72
Frontal Lobe1.95 ± 0.62
Globus Pallidus2.44 ± 0.44
Hypothalamus2.25 ± 0.76
Insula1.88 ± 0.47
Limbic Lobe2.23 ± 0.78
Mesencephalon2.26 ± 0.75
Myelencephalon2.2 ± 0.67
Occipital Lobe2.21 ± 0.61
Parietal Lobe2.16 ± 0.68
Pontine Tegmentum2.26 ± 0.78
Striatum3.5 ± 0.56
Subthalamus2.3 ± 0.72
Temporal Lobe2.08 ± 0.76
Thalamus2.19 ± 0.65
White Matter2.41 ± 0.36
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Kbtbd1CBCerebellum1.71
2.3
Kbtbd1CTXCerebral cortex0.58
0.75
Kbtbd1HIPHippocampal region0.63
0.78
Kbtbd1HPFHippocampal formation0.49
0.57
Kbtbd1HYHypothalamus0.27
0.27
Kbtbd1LSXLateral septal complex0.04
0
Kbtbd1MBMidbrain0.31
0.35
Kbtbd1MYMedulla3.44
4.18
Kbtbd1OLFOlfactory bulb3.7
4.67
Kbtbd1PPons1.95
2.59
Kbtbd1PALPallidum0.4
0.46
Kbtbd1RHPRetrohippocampal region0.22
0.24
Kbtbd1sAMYStriatum-like amygdalar nuclei0.19
0.42
Kbtbd1STRStriatum0.37
0.31
Kbtbd1STRdStriatum dorsal region0.21
0.17
Kbtbd1STRvStriatum ventral region1.05
0.75
Kbtbd1THThalamus0.18
0.17
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