AutismKB 2.0

Annotation Detail for ISM1


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Basic Information Top
Gene Symbol:ISM1 ( C20orf82,ISM,Isthmin,bA149I18.1,dJ1077I2.1 )
Gene Full Name: isthmin 1 homolog (zebrafish)
Band: 20p12.1
Quick LinksEntrez ID:140862; OMIM: NA; Uniprot ID:ISM1_HUMAN; ENSEMBL ID: ENSG00000101230; HGNC ID: 16213
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 
fetus8 / 56401214
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult11 / 19391215
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor2 / 6895929
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal25 / 33603077
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
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 tissue1 / 1310676
adrenal gland2 / 3319760
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone1 / 7165513
bone marrow0 / 488010 
brain2 / 11009891
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye2 / 2110549
heart2 / 8962622
intestine0 / 2344720 
kidney3 / 21177714
larynx0 / 241450 
liver1 / 2077434
lung3 / 3369748
lymph0 / 442700 
lymph node0 / 916100 
mammary gland2 / 15327113
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta4 / 28082514
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus1 / 2328784
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_32_P186731
  • 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
Amygdala4.49 ± 0.34
Basal Forebrain5.3 ± 0.31
Basal Part of Pons4.18 ± 0.5
Cerebellar Cortex4.42 ± 0.43
Cerebellar Nuclei5.19 ± 0.61
Claustrum5.3 ± 0.92
Epithalamus4.37 ± 0.6
Frontal Lobe4.79 ± 0.57
Globus Pallidus5.97 ± 0.35
Hypothalamus5.53 ± 0.49
Insula4.93 ± 0.59
Limbic Lobe4.8 ± 0.83
Mesencephalon5.33 ± 0.85
Myelencephalon5.06 ± 0.57
Occipital Lobe5.13 ± 0.65
Parietal Lobe4.81 ± 0.64
Pontine Tegmentum4.95 ± 0.45
Striatum5.69 ± 0.58
Subthalamus4.89 ± 0.4
Temporal Lobe4.73 ± 0.49
Thalamus5.52 ± 0.67
White Matter4.59 ± 0.44
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
5430433G21RikCBCerebellum6.1
6.8
5430433G21RikCTXCerebral cortex5.63
4.15
5430433G21RikHIPHippocampal region6.03
5.91
5430433G21RikHPFHippocampal formation4.51
4.14
5430433G21RikHYHypothalamus1.26
1.13
5430433G21RikLSXLateral septal complex1.06
0.97
5430433G21RikMBMidbrain2.29
2.15
5430433G21RikMYMedulla7.43
8.17
5430433G21RikOLFOlfactory bulb5.74
5.01
5430433G21RikPPons3.12
4.1
5430433G21RikPALPallidum0.53
0.37
5430433G21RikRHPRetrohippocampal region2.26
1.75
5430433G21RiksAMYStriatum-like amygdalar nuclei1.14
0.94
5430433G21RikSTRStriatum0.6
0.56
5430433G21RikSTRdStriatum dorsal region0.43
0.46
5430433G21RikSTRvStriatum ventral region0.61
0.44
5430433G21RikTHThalamus2.81
2.59
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