AutismKB 2.0

Annotation Detail for NHS


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Basic Information Top
Gene Symbol:NHS ( DKFZp781F2016,DKFZp781L0254,FLJ22511,SCML1 )
Gene Full Name: Nance-Horan syndrome (congenital cataracts and dental anomalies)
Band: Xp22.2-p22.13
Quick LinksEntrez ID:4810; OMIM: 300457; Uniprot ID:NHS_HUMAN; ENSEMBL ID: ENSG00000188158; HGNC ID: 7820
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 
fetus9 / 56401215
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult16 / 19391218
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 
chondrosarcoma2 / 8282324
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor6 / 26384522
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal38 / 336030711
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 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 
bladder1 / 2975733
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain4 / 11009893
cervix0 / 481710 
connective tissue2 / 14925513
ear4 / 16212246
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye9 / 21105442
heart0 / 896260 
intestine2 / 2344728
kidney7 / 21177733
larynx0 / 241450 
liver0 / 2077430 
lung7 / 33697420
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach5 / 9661951
testis5 / 33044215
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
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: CUST_10100_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
Amygdala6.99 ± 0.29
Basal Forebrain6.86 ± 0.15
Basal Part of Pons5.55 ± 0.33
Cerebellar Cortex5.55 ± 0.32
Cerebellar Nuclei6.38 ± 0.36
Claustrum6.73 ± 0.52
Epithalamus6.56 ± 0.34
Frontal Lobe6.05 ± 0.54
Globus Pallidus5.56 ± 0.83
Hypothalamus6.48 ± 0.47
Insula6.07 ± 0.37
Limbic Lobe6.04 ± 0.61
Mesencephalon6.11 ± 0.6
Myelencephalon6.16 ± 0.55
Occipital Lobe6.18 ± 0.4
Parietal Lobe6.27 ± 0.61
Pontine Tegmentum6.24 ± 0.6
Striatum6.63 ± 0.36
Subthalamus6.56 ± 0.02
Temporal Lobe6.09 ± 0.51
Thalamus5.66 ± 0.4
White Matter4.09 ± 0.88
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
NhsCBCerebellum2.56
3.23
NhsCTXCerebral cortex1.54
1.29
NhsHIPHippocampal region0.94
0.81
NhsHPFHippocampal formation0.96
0.8
NhsHYHypothalamus0.73
0.57
NhsLSXLateral septal complex2.58
1.53
NhsMBMidbrain2.64
2.42
NhsMYMedulla7.4
7.7
NhsOLFOlfactory bulb4.03
3.11
NhsPPons3.77
4.05
NhsPALPallidum2.15
1.56
NhsRHPRetrohippocampal region1.04
0.83
NhssAMYStriatum-like amygdalar nuclei2.11
1.51
NhsSTRStriatum1.09
0.73
NhsSTRdStriatum dorsal region0.61
0.44
NhsSTRvStriatum ventral region0.85
0.42
NhsTHThalamus1.5
1.33
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