AutismKB 2.0

Annotation Detail for KATNAL2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:KATNAL2 ( DKFZp667C165,MGC33211 )
Gene Full Name: katanin p60 subunit A-like 2
Band: 18q21.1
Quick LinksEntrez ID:83473; OMIM: NA; Uniprot ID:KATL2_HUMAN; ENSEMBL ID: ENSG00000167216; HGNC ID: 25387
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 body1 / 7076114
blastocyst1 / 6231916
fetus4 / 5640127
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult39 / 193912120
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 tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor2 / 2638457
glioma2 / 10688318
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal53 / 336030715
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
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 
bone0 / 716550 
bone marrow0 / 488010 
brain31 / 110098928
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine1 / 2344724
kidney3 / 21177714
larynx0 / 241450 
liver2 / 2077439
lung3 / 3369748
lymph0 / 442700 
lymph node2 / 9161021
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta3 / 28082510
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis13 / 33044239
thymus0 / 811310 
thyroid1 / 4747321
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_13724_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
Amygdala4.21 ± 0.66
Basal Forebrain4.13 ± 0.7
Basal Part of Pons4.4 ± 0.47
Cerebellar Cortex4.09 ± 0.43
Cerebellar Nuclei4.42 ± 0.48
Claustrum3.67 ± 0.66
Epithalamus5.61 ± 0.58
Frontal Lobe4.35 ± 0.59
Globus Pallidus5.51 ± 0.28
Hypothalamus4.25 ± 0.4
Insula4.1 ± 0.37
Limbic Lobe4.31 ± 0.55
Mesencephalon4.5 ± 0.52
Myelencephalon4.41 ± 0.6
Occipital Lobe4.41 ± 0.56
Parietal Lobe4.5 ± 0.51
Pontine Tegmentum4.33 ± 0.65
Striatum4.36 ± 0.6
Subthalamus4.33 ± 0.38
Temporal Lobe4.29 ± 0.51
Thalamus4.5 ± 0.43
White Matter5.7 ± 0.21
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Katnal2CBCerebellum41.35
93.64
Katnal2CTXCerebral cortex100
100
Katnal2HIPHippocampal region100
100
Katnal2HPFHippocampal formation100
100
Katnal2HYHypothalamus94.06
98.46
Katnal2LSXLateral septal complex100
100
Katnal2MBMidbrain81.28
91.41
Katnal2MYMedulla91.38
100
Katnal2OLFOlfactory bulb100
100
Katnal2PPons74.98
100
Katnal2PALPallidum92.7
100
Katnal2RHPRetrohippocampal region100
100
Katnal2sAMYStriatum-like amygdalar nuclei100
100
Katnal2STRStriatum100
100
Katnal2STRdStriatum dorsal region100
100
Katnal2STRvStriatum ventral region100
100
Katnal2THThalamus55.61
61.16
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