AutismKB 2.0

Annotation Detail for ADAMTSL1


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Basic Information Top
Gene Symbol:ADAMTSL1 ( ADAMTSL-1,ADAMTSR1,C9orf94,DKFZp686L03130,FLJ35283,FLJ41032,FLJ46891,MGC118803,MGC118805,MGC40193,PUNCTIN )
Gene Full Name: ADAMTS-like 1
Band: 9p22.2-p22.1
Quick LinksEntrez ID:92949; OMIM: 609198; Uniprot ID:ATL1_HUMAN; ENSEMBL ID: ENSG00000178031; HGNC ID: 14632
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
blastocyst3 / 6231948
fetus6 / 56401210
neonate2 / 3109764
infant1 / 2362042
juvenile1 / 5555617
adult14 / 19391217
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 
chondrosarcoma3 / 8282336
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor4 / 26384515
glioma3 / 10688328
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal37 / 336030711
ovarian tumor3 / 7668239
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor2 / 12519115
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 
bone2 / 7165527
bone marrow0 / 488010 
brain11 / 11009899
cervix0 / 481710 
connective tissue9 / 14925560
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye2 / 2110549
heart1 / 8962611
intestine2 / 2344728
kidney1 / 2117774
larynx0 / 241450 
liver0 / 2077430 
lung5 / 33697414
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary3 / 10205129
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate5 / 18934526
salivary gland0 / 201550 
skin9 / 21057442
spleen0 / 539520 
stomach1 / 9661910
testis2 / 3304426
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus5 / 23287821
vascular3 / 5178057
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P312415
  • 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
Amygdala2.84 ± 1.08
Basal Forebrain2.32 ± 0.43
Basal Part of Pons2 ± 0.41
Cerebellar Cortex2.5 ± 0.9
Cerebellar Nuclei2.64 ± 0.89
Claustrum3.21 ± 1.04
Epithalamus2.04 ± 0.7
Frontal Lobe2.1 ± 0.68
Globus Pallidus2.7 ± 0.54
Hypothalamus2.3 ± 0.75
Insula2.09 ± 0.64
Limbic Lobe2.5 ± 0.78
Mesencephalon2.5 ± 0.74
Myelencephalon2.42 ± 0.73
Occipital Lobe2.42 ± 0.64
Parietal Lobe2.57 ± 0.88
Pontine Tegmentum2.43 ± 0.73
Striatum2.23 ± 0.54
Subthalamus2.29 ± 0.66
Temporal Lobe2.3 ± 0.77
Thalamus2.63 ± 0.75
White Matter2.47 ± 0.13
Mouse Brain ISH
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