AutismKB 2.0

Annotation Detail for SGSH


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Basic Information Top
Gene Symbol:SGSH ( HSS,MPS3A,SFMD )
Gene Full Name: N-sulfoglucosamine sulfohydrolase
Band: 17q25.3
Quick LinksEntrez ID:6448; OMIM: 605270; Uniprot ID:SPHM_HUMAN; ENSEMBL ID: ENSG00000181523; HGNC ID: 10818
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 
blastocyst1 / 6231916
fetus18 / 56401231
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult84 / 193912143
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) tumor11 / 94178116
cervical tumor0 / 343660 
chondrosarcoma6 / 8282372
colorectal tumor1 / 1142468
esophageal tumor1 / 1729057
gastrointestinal tumor5 / 11936941
germ cell tumor8 / 26384530
glioma4 / 10688337
head and neck tumor16 / 136302117
kidney tumor2 / 6895929
leukemia1 / 9584210
liver tumor1 / 9635910
lung tumor5 / 10312748
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal151 / 336030744
ovarian tumor0 / 766820 
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer3 / 10268029
retinoblastoma0 / 463560 
skin tumor4 / 12494932
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland7 / 33197210
ascites3 / 4001574
bladder2 / 2975767
blood5 / 12347840
bone1 / 7165513
bone marrow0 / 488010 
brain36 / 110098932
cervix0 / 481710 
connective tissue6 / 14925540
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus1 / 2020949
eye6 / 21105428
heart0 / 896260 
intestine8 / 23447234
kidney16 / 21177775
larynx0 / 241450 
liver1 / 2077434
lung27 / 33697480
lymph0 / 442700 
lymph node0 / 916100 
mammary gland13 / 15327184
mouth9 / 67052134
muscle1 / 1077159
nerve0 / 157680 
ovary1 / 1020519
pancreas9 / 21481241
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta22 / 28082578
prostate11 / 18934558
salivary gland6 / 20155297
skin7 / 21057433
spleen9 / 53952166
stomach4 / 9661941
testis11 / 33044233
thymus4 / 8113149
thyroid4 / 4747384
tonsil2 / 16999117
trachea6 / 52413114
umbilical cord0 / 136800 
uterus17 / 23287872
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 35626_at
Cell line Expression level Expression bar
721_B_lymphoblasts7
Adipocyte6.6
AdrenalCortex45.75
Adrenalgland23.7
Amygdala5.8
Appendix6
AtrioventricularNode4.25
BDCA4+_DentriticCells49.7
Bonemarrow5.4
BronchialEpithelialCells5
CD105+_Endothelial5.6
CD14+_Monocytes201.4
CD19+_BCells(neg._sel.)40.55
CD33+_Myeloid355.3
CD34+6.4
CD4+_Tcells204.75
CD56+_NKCells141.75
CD71+_EarlyErythroid4.9
CD8+_Tcells188.75
CardiacMyocytes7.75
Caudatenucleus4.75
Cerebellum4
CerebellumPeduncles5.95
CiliaryGanglion4.5
CingulateCortex5.5
Colorectaladenocarcinoma4.9
DorsalRootGanglion4.25
FetalThyroid15.6
Fetalbrain5.25
Fetalliver4.35
Fetallung14.05
GlobusPallidus3.95
Heart8.15
Hypothalamus10.7
Kidney4.35
Leukemia_chronicMyelogenousK-5624.95
Leukemia_promyelocytic-HL-604.65
Leukemialymphoblastic(MOLT-4)3.75
Liver6.75
Lung14.15
Lymphnode7.05
Lymphoma_burkitts(Daudi)6.8
Lymphoma_burkitts(Raji)7.6
MedullaOblongata4.85
OccipitalLobe4.65
OlfactoryBulb6.6
Ovary3.6
Pancreas4.6
PancreaticIslet6.8
ParietalLobe5.65
Pituitary10.3
Placenta14.3
Pons5.25
PrefrontalCortex6.85
Prostate48.35
Salivarygland4.35
SkeletalMuscle6.3
Skin4.5
SmoothMuscle10.65
Spinalcord6.95
SubthalamicNucleus5
SuperiorCervicalGanglion6.25
TemporalLobe4.95
Testis4.7
TestisGermCell4.5
TestisIntersitial4.6
TestisLeydigCell5.15
TestisSeminiferousTubule4.55
Thalamus5.4
Thymus4.35
Thyroid12.25
Tongue5.4
Tonsil5.25
Trachea4.5
TrigeminalGanglion5.8
Uterus7.85
UterusCorpus4.9
WholeBlood8.1
Wholebrain4.2
colon5.4
pineal_day13.98
pineal_night12.7
retina8.575
small_intestine5.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_7772_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
Amygdala2.69 ± 1.02
Basal Forebrain2.9 ± 0.58
Basal Part of Pons2.49 ± 0.73
Cerebellar Cortex1.95 ± 0.77
Cerebellar Nuclei2.47 ± 0.91
Claustrum3.15 ± 0.76
Epithalamus2.29 ± 0.9
Frontal Lobe2.12 ± 0.86
Globus Pallidus3.14 ± 0.76
Hypothalamus2.71 ± 0.74
Insula2.5 ± 0.87
Limbic Lobe2.21 ± 0.8
Mesencephalon2.55 ± 0.7
Myelencephalon2.41 ± 0.84
Occipital Lobe2.38 ± 0.64
Parietal Lobe2.44 ± 0.95
Pontine Tegmentum2.35 ± 0.84
Striatum2.57 ± 0.72
Subthalamus2.36 ± 0.4
Temporal Lobe2.26 ± 0.88
Thalamus2.3 ± 0.7
White Matter2.91 ± 0.59
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
SgshCBCerebellum19.02
24.45
SgshCTXCerebral cortex21.79
15.72
SgshHIPHippocampal region10.62
9.93
SgshHPFHippocampal formation15.33
13.4
SgshHYHypothalamus0.28
0.18
SgshLSXLateral septal complex0.47
0.37
SgshMBMidbrain4.58
4.42
SgshMYMedulla4.6
4.33
SgshOLFOlfactory bulb11.63
8.64
SgshPPons2.33
2.37
SgshPALPallidum2.26
1.85
SgshRHPRetrohippocampal region22.28
17.42
SgshsAMYStriatum-like amygdalar nuclei6.48
4.14
SgshSTRStriatum3.14
2.1
SgshSTRdStriatum dorsal region3.01
2.11
SgshSTRvStriatum ventral region2.9
1.72
SgshTHThalamus3.61
3.06
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00039649 14 183 196 CGHSQPQYGTFCEK Peptide Atlas
SPHM_HUMAN_105 12 105 116 SLPLLLSQAGVR PRIDE
SPHM_HUMAN_197 10 197 206 FGNGESGMGR PRIDE
SPHM_HUMAN_233 12 233 244 ADLAAQYTTVGR PRIDE
SPHM_HUMAN_245 13 245 257 MDQGVGLVLQELR PRIDE
SPHM_HUMAN_457 9 457 465 FAQLLEMLR PRIDE

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


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