AutismKB 2.0

Annotation Detail for SORD


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Basic Information Top
Gene Symbol:SORD ( SORD1 )
Gene Full Name: sorbitol dehydrogenase
Band: 15q21.1
Quick LinksEntrez ID:6652; OMIM: 182500; Uniprot ID:DHSO_HUMAN; ENSEMBL ID: ENSG00000140263; HGNC ID: 11184
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
blastocyst8 / 62319128
fetus37 / 56401265
neonate3 / 3109796
infant4 / 23620169
juvenile19 / 55556341
adult201 / 1939121103
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) tumor16 / 94178169
cervical tumor9 / 34366261
chondrosarcoma6 / 8282372
colorectal tumor13 / 114246113
esophageal tumor3 / 17290173
gastrointestinal tumor13 / 119369108
germ cell tumor32 / 263845121
glioma12 / 106883112
head and neck tumor16 / 136302117
kidney tumor7 / 68959101
leukemia14 / 95842146
liver tumor22 / 96359228
lung tumor10 / 10312796
lymphoma6 / 7175583
non-neoplasia10 / 97250102
normal331 / 336030798
ovarian tumor3 / 7668239
pancreatic tumor7 / 10461666
primitive neuroectodermal tumor of the CNS31 / 125680246
prostate cancer57 / 102680555
retinoblastoma6 / 46356129
skin tumor17 / 124949136
soft tissue/muscle tissue tumor8 / 12519163
uterine tumor12 / 90257132
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland3 / 3319790
ascites8 / 40015199
bladder3 / 29757100
blood11 / 12347889
bone4 / 7165555
bone marrow6 / 48801122
brain88 / 110098979
cervix10 / 48171207
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue19 / 21572288
esophagus3 / 20209148
eye21 / 21105499
heart0 / 896260 
intestine24 / 234472102
kidney48 / 211777226
larynx1 / 2414541
liver49 / 207743235
lung31 / 33697491
lymph3 / 4427067
lymph node3 / 9161032
mammary gland30 / 153271195
mouth9 / 67052134
muscle1 / 1077159
nerve4 / 15768253
ovary8 / 10205178
pancreas14 / 21481265
parathyroid1 / 2053948
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta5 / 28082517
prostate138 / 189345728
salivary gland2 / 2015599
skin25 / 210574118
spleen4 / 5395274
stomach8 / 9661982
testis23 / 33044269
thymus1 / 8113112
thyroid29 / 47473610
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord0 / 136800 
uterus25 / 232878107
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201563_at
Cell line Expression level Expression bar
721_B_lymphoblasts158.5
Adipocyte7.6
AdrenalCortex12.4
Adrenalgland111
Amygdala14.85
Appendix8.15
AtrioventricularNode6.25
BDCA4+_DentriticCells29.15
Bonemarrow8.25
BronchialEpithelialCells78.05
CD105+_Endothelial76.75
CD14+_Monocytes16.8
CD19+_BCells(neg._sel.)12.35
CD33+_Myeloid44.25
CD34+98.6
CD4+_Tcells7.85
CD56+_NKCells8.75
CD71+_EarlyErythroid6.2
CD8+_Tcells4.9
CardiacMyocytes10.3
Caudatenucleus7.05
Cerebellum8.05
CerebellumPeduncles9.25
CiliaryGanglion5.7
CingulateCortex8
Colorectaladenocarcinoma42.6
DorsalRootGanglion6.25
FetalThyroid1184.1
Fetalbrain8.9
Fetalliver350.6
Fetallung33.45
GlobusPallidus4.8
Heart10.2
Hypothalamus23.8
Kidney646.85
Leukemia_chronicMyelogenousK-56284
Leukemia_promyelocytic-HL-6032.3
Leukemialymphoblastic(MOLT-4)61.7
Liver1175.8
Lung8.5
Lymphnode10.45
Lymphoma_burkitts(Daudi)10
Lymphoma_burkitts(Raji)20.9
MedullaOblongata6.95
OccipitalLobe6.9
OlfactoryBulb54.15
Ovary5.2
Pancreas13.65
PancreaticIslet16.85
ParietalLobe8.35
Pituitary14.5
Placenta7.75
Pons7.5
PrefrontalCortex11.1
Prostate1980.35
Salivarygland8.8
SkeletalMuscle9.2
Skin6.25
SmoothMuscle13.6
Spinalcord61.55
SubthalamicNucleus7.15
SuperiorCervicalGanglion10.65
TemporalLobe7.1
Testis12.4
TestisGermCell24.9
TestisIntersitial6.55
TestisLeydigCell7.75
TestisSeminiferousTubule7.35
Thalamus9.35
Thymus7.75
Thyroid2577.75
Tongue9.65
Tonsil10.4
Trachea45.3
TrigeminalGanglion8
Uterus13.5
UterusCorpus7.5
WholeBlood24.25
Wholebrain20.45
colon39.2
pineal_day20.6
pineal_night18.54
retina35.2
small_intestine158.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P89691
  • 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
Amygdala7.61 ± 0.24
Basal Forebrain7.86 ± 0.26
Basal Part of Pons7.44 ± 0.24
Cerebellar Cortex7.68 ± 0.21
Cerebellar Nuclei7.99 ± 0.26
Claustrum7.28 ± 0.39
Epithalamus8.25 ± 0.31
Frontal Lobe7.64 ± 0.32
Globus Pallidus8.5 ± 0.24
Hypothalamus7.99 ± 0.23
Insula7.59 ± 0.3
Limbic Lobe7.51 ± 0.37
Mesencephalon7.96 ± 0.34
Myelencephalon7.74 ± 0.31
Occipital Lobe7.42 ± 0.28
Parietal Lobe7.67 ± 0.28
Pontine Tegmentum7.7 ± 0.23
Striatum7.48 ± 0.28
Subthalamus7.8 ± 0.08
Temporal Lobe7.68 ± 0.32
Thalamus7.77 ± 0.24
White Matter8.95 ± 0.37
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
SordCBCerebellum12.13
14.85
SordCTXCerebral cortex16.1
11.38
SordHIPHippocampal region12.97
12.51
SordHPFHippocampal formation12.09
10.85
SordHYHypothalamus7.27
6.04
SordLSXLateral septal complex0.87
1.61
SordMBMidbrain16.47
16.56
SordMYMedulla24.06
28.23
SordOLFOlfactory bulb10.34
7.1
SordPPons18.81
21.52
SordPALPallidum14.31
14.25
SordRHPRetrohippocampal region10.86
8.75
SordsAMYStriatum-like amygdalar nuclei13.69
10.28
SordSTRStriatum5.54
4.47
SordSTRdStriatum dorsal region4.41
3.78
SordSTRvStriatum ventral region7.43
5.18
SordTHThalamus20.91
17.74
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
DHSO_HUMAN_1 20 1 20 AAAAKPNNLSLVVHGPGDLR PRIDE
DHSO_HUMAN_142 24 142 165 LPDNVTFEEGALIEPLSVGIHACR PRIDE
DHSO_HUMAN_175 18 175 192 VLVCGAGPIGMVTLLVAK PRIDE
DHSO_HUMAN_193 16 193 208 AMGAAQVVVTDLSATR PRIDE
DHSO_HUMAN_21 17 21 37 LENYPIPEPGPNEVLLR PRIDE
DHSO_HUMAN_299 15 299 313 YCNTWPVAISMLASK PRIDE
DHSO_HUMAN_38 18 38 55 MHSVGICGSDVHYWEYGR PRIDE
PAp00003461 8 135 142 HNAAFCYK 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