AutismKB 2.0

Annotation Detail for DIS3L2


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Basic Information Top
Gene Symbol:DIS3L2 ( FAM6A,FLJ36974,MGC42174 )
Gene Full Name: DIS3 mitotic control homolog (S. cerevisiae)-like 2
Band: 2q37.1
Quick LinksEntrez ID:129563; OMIM: NA; Uniprot ID:DI3L2_HUMAN; ENSEMBL ID: ENSG00000144535; HGNC ID: 28648
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
blastocyst2 / 6231932
fetus7 / 56401212
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult64 / 193912133
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) tumor2 / 9417821
cervical tumor2 / 3436658
chondrosarcoma2 / 8282324
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor3 / 26384511
glioma2 / 10688318
head and neck tumor13 / 13630295
kidney tumor3 / 6895943
leukemia5 / 9584252
liver tumor0 / 963590 
lung tumor5 / 10312748
lymphoma2 / 7175527
non-neoplasia0 / 972500 
normal78 / 336030723
ovarian tumor2 / 7668226
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
skin tumor2 / 12494916
soft tissue/muscle tissue tumor10 / 12519179
uterine tumor1 / 9025711
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 
blood1 / 1234788
bone3 / 7165541
bone marrow1 / 4880120
brain18 / 110098916
cervix2 / 4817141
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue6 / 21572227
esophagus0 / 202090 
eye6 / 21105428
heart0 / 896260 
intestine5 / 23447221
kidney11 / 21177751
larynx0 / 241450 
liver2 / 2077439
lung9 / 33697426
lymph2 / 4427045
lymph node8 / 9161087
mammary gland5 / 15327132
mouth13 / 67052193
muscle6 / 10771555
nerve2 / 15768126
ovary2 / 10205119
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta7 / 28082524
prostate0 / 1893450 
salivary gland0 / 201550 
skin2 / 2105749
spleen1 / 5395218
stomach5 / 9661951
testis10 / 33044230
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus5 / 23287821
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P113888
  • 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
Amygdala4.02 ± 0.54
Basal Forebrain4.07 ± 0.39
Basal Part of Pons4.5 ± 0.42
Cerebellar Cortex4.17 ± 0.56
Cerebellar Nuclei4.03 ± 0.59
Claustrum3.69 ± 0.76
Epithalamus4.37 ± 0.38
Frontal Lobe4.24 ± 0.54
Globus Pallidus3.81 ± 0.5
Hypothalamus4.01 ± 0.36
Insula4.31 ± 0.46
Limbic Lobe4.26 ± 0.54
Mesencephalon4.11 ± 0.45
Myelencephalon4.21 ± 0.45
Occipital Lobe4.38 ± 0.39
Parietal Lobe4.22 ± 0.54
Pontine Tegmentum4.04 ± 0.61
Striatum4.12 ± 0.51
Subthalamus4.05 ± 0.67
Temporal Lobe4.26 ± 0.45
Thalamus4.3 ± 0.57
White Matter5.13 ± 0.32
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
4930429A22RikCBCerebellum20.3
31.69
4930429A22RikCTXCerebral cortex100
100
4930429A22RikHIPHippocampal region68.22
100
4930429A22RikHPFHippocampal formation77.91
100
4930429A22RikHYHypothalamus54.44
48.79
4930429A22RikLSXLateral septal complex80.87
59.3
4930429A22RikMBMidbrain43.53
43.37
4930429A22RikMYMedulla26.62
36.91
4930429A22RikOLFOlfactory bulb74.65
68.69
4930429A22RikPPons31.14
39.12
4930429A22RikPALPallidum51.02
47.61
4930429A22RikRHPRetrohippocampal region100
100
4930429A22RiksAMYStriatum-like amygdalar nuclei40.39
30.59
4930429A22RikSTRStriatum52.44
37.94
4930429A22RikSTRdStriatum dorsal region51.23
37.58
4930429A22RikSTRvStriatum ventral region47.77
31.8
4930429A22RikTHThalamus78.14
68.68
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00074181 16 492 507 LSYEHAQSMIESPTEK 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