AutismKB 2.0

Annotation Detail for ADSSL1


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Basic Information Top
Gene Symbol:ADSSL1 ( FLJ38602 )
Gene Full Name: adenylosuccinate synthase like 1
Band: 14q32.33
Quick LinksEntrez ID:122622; OMIM: 612498; Uniprot ID:PURA1_HUMAN; ENSEMBL ID: ENSG00000185100; HGNC ID: 20093
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 
fetus11 / 56401219
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult67 / 193912134
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 tumor3 / 3436687
chondrosarcoma2 / 8282324
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor4 / 26384515
glioma6 / 10688356
head and neck tumor2 / 13630214
kidney tumor1 / 6895914
leukemia2 / 9584220
liver tumor1 / 9635910
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal95 / 336030728
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
skin tumor1 / 1249498
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue3 / 13106228
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood2 / 12347816
bone1 / 7165513
bone marrow0 / 488010 
brain15 / 110098913
cervix7 / 48171145
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye8 / 21105437
heart12 / 89626133
intestine0 / 2344720 
kidney9 / 21177742
larynx1 / 2414541
liver3 / 20774314
lung4 / 33697411
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth1 / 6705214
muscle21 / 107715194
nerve0 / 157680 
ovary1 / 1020519
pancreas4 / 21481218
parathyroid2 / 2053997
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta7 / 28082524
prostate2 / 18934510
salivary gland0 / 201550 
skin3 / 21057414
spleen1 / 5395218
stomach2 / 9661920
testis19 / 33044257
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus2 / 2328788
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_10626_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
Amygdala3.55 ± 0.65
Basal Forebrain4.33 ± 0.45
Basal Part of Pons4.41 ± 0.69
Cerebellar Cortex3.57 ± 0.41
Cerebellar Nuclei4.66 ± 0.54
Claustrum3.37 ± 0.71
Epithalamus4.66 ± 0.66
Frontal Lobe4.14 ± 0.67
Globus Pallidus5.7 ± 0.31
Hypothalamus4.5 ± 0.5
Insula3.84 ± 0.53
Limbic Lobe3.66 ± 0.74
Mesencephalon4.11 ± 0.66
Myelencephalon4.09 ± 0.66
Occipital Lobe4.07 ± 0.6
Parietal Lobe4.19 ± 0.63
Pontine Tegmentum4.1 ± 0.59
Striatum4.53 ± 0.45
Subthalamus3.82 ± 0.18
Temporal Lobe3.77 ± 0.56
Thalamus4.42 ± 0.58
White Matter5.79 ± 0.41
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Adssl1CBCerebellum31.27
40.4
Adssl1CTXCerebral cortex54.03
48.62
Adssl1HIPHippocampal region20.69
25.68
Adssl1HPFHippocampal formation30.66
33.41
Adssl1HYHypothalamus36.22
30.65
Adssl1LSXLateral septal complex7.64
6.33
Adssl1MBMidbrain59.74
60.66
Adssl1MYMedulla70.96
83.31
Adssl1OLFOlfactory bulb37.43
32.51
Adssl1PPons70.74
81.09
Adssl1PALPallidum40.96
42.98
Adssl1RHPRetrohippocampal region45.24
42.45
Adssl1sAMYStriatum-like amygdalar nuclei22.13
18.61
Adssl1STRStriatum18.58
14.69
Adssl1STRdStriatum dorsal region19.68
15.37
Adssl1STRvStriatum ventral region18.15
14.36
Adssl1THThalamus30.78
27.32
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00010411 14 182 195 ICDLLSDFDEFSSR 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