AutismKB 2.0

Annotation Detail for KATNAL1


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Basic Information Top
Gene Symbol:KATNAL1 ( MGC2599 )
Gene Full Name: katanin p60 subunit A-like 1
Band: 13q12.3
Quick LinksEntrez ID:84056; OMIM: NA; Uniprot ID:KATL1_HUMAN; ENSEMBL ID: ENSG00000102781; HGNC ID: 28361
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 body4 / 7076156
blastocyst0 / 623190 
fetus21 / 56401237
neonate2 / 3109764
infant0 / 236200 
juvenile3 / 5555653
adult37 / 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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma8 / 8282396
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor7 / 26384526
glioma2 / 10688318
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia2 / 9584220
liver tumor2 / 9635920
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal81 / 336030724
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor0 / 1251910 
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 
blood2 / 12347816
bone5 / 7165569
bone marrow0 / 488010 
brain13 / 110098911
cervix0 / 481710 
connective tissue3 / 14925520
ear2 / 16212123
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine0 / 2344720 
kidney3 / 21177714
larynx0 / 241450 
liver3 / 20774314
lung4 / 33697411
lymph0 / 442700 
lymph node11 / 91610120
mammary gland11 / 15327171
mouth0 / 670520 
muscle3 / 10771527
nerve1 / 1576863
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid1 / 2053948
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate1 / 1893455
salivary gland1 / 2015549
skin6 / 21057428
spleen1 / 5395218
stomach0 / 966190 
testis18 / 33044254
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus4 / 23287817
vascular1 / 5178019
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P151415
  • 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
Amygdala8.57 ± 0.26
Basal Forebrain8.71 ± 0.11
Basal Part of Pons8.83 ± 0.16
Cerebellar Cortex8.68 ± 0.21
Cerebellar Nuclei8.56 ± 0.27
Claustrum9.1 ± 0.18
Epithalamus9.11 ± 0.34
Frontal Lobe8.81 ± 0.27
Globus Pallidus8.44 ± 0.22
Hypothalamus9.02 ± 0.25
Insula8.83 ± 0.18
Limbic Lobe8.63 ± 0.28
Mesencephalon8.7 ± 0.29
Myelencephalon8.7 ± 0.3
Occipital Lobe8.54 ± 0.34
Parietal Lobe8.76 ± 0.22
Pontine Tegmentum8.74 ± 0.28
Striatum8.4 ± 0.34
Subthalamus8.73 ± 0.25
Temporal Lobe8.79 ± 0.22
Thalamus8.77 ± 0.26
White Matter9.18 ± 0.19
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Katnal1CBCerebellum24.52
65.89
Katnal1CTXCerebral cortex100
100
Katnal1HIPHippocampal region87.6
100
Katnal1HPFHippocampal formation77.7
100
Katnal1HYHypothalamus49.44
60.38
Katnal1LSXLateral septal complex60.48
60.8
Katnal1MBMidbrain35.12
46.92
Katnal1MYMedulla12.82
23.45
Katnal1OLFOlfactory bulb78
100
Katnal1PPons27.28
47.08
Katnal1PALPallidum54.69
68.16
Katnal1RHPRetrohippocampal region52.91
54.77
Katnal1sAMYStriatum-like amygdalar nuclei40.86
45.33
Katnal1STRStriatum37.43
37.17
Katnal1STRdStriatum dorsal region26.36
23.17
Katnal1STRvStriatum ventral region61.29
64.03
Katnal1THThalamus73.65
82.09
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00498897 17 78 94 IDKPPDFPVSCQDEPFR Peptide Atlas

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