AutismKB 2.0

Annotation Detail for SBDS


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SBDS ( FLJ10917,SDS,SWDS )
Gene Full Name: Shwachman-Bodian-Diamond syndrome
Band: 7q11.21
Quick LinksEntrez ID:51119; OMIM: 607444; Uniprot ID:SBDS_HUMAN; ENSEMBL ID: ENSG00000126524; HGNC ID: 19440
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 body2 / 7076128
blastocyst3 / 6231948
fetus17 / 56401230
neonate2 / 3109764
infant1 / 2362042
juvenile2 / 5555635
adult150 / 193912177
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor3 / 12794234
bladder carcinoma0 / 174750 
breast (mammary gland) tumor3 / 9417831
cervical tumor3 / 3436687
chondrosarcoma5 / 8282360
colorectal tumor9 / 11424678
esophageal tumor1 / 1729057
gastrointestinal tumor10 / 11936983
germ cell tumor3 / 26384511
glioma21 / 106883196
head and neck tumor7 / 13630251
kidney tumor3 / 6895943
leukemia3 / 9584231
liver tumor5 / 9635951
lung tumor2 / 10312719
lymphoma5 / 7175569
non-neoplasia5 / 9725051
normal212 / 336030763
ovarian tumor2 / 7668226
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer7 / 10268068
retinoblastoma1 / 4635621
skin tumor13 / 124949104
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland4 / 33197120
ascites2 / 4001549
bladder1 / 2975733
blood6 / 12347848
bone2 / 7165527
bone marrow1 / 4880120
brain99 / 110098989
cervix3 / 4817162
connective tissue3 / 14925520
ear1 / 1621261
embryonic tissue6 / 21572227
esophagus1 / 2020949
eye11 / 21105452
heart9 / 89626100
intestine16 / 23447268
kidney5 / 21177723
larynx2 / 2414582
liver10 / 20774348
lung21 / 33697462
lymph2 / 4427045
lymph node3 / 9161032
mammary gland3 / 15327119
mouth0 / 670520 
muscle7 / 10771564
nerve3 / 15768190
ovary2 / 10205119
pancreas32 / 214812148
parathyroid3 / 20539146
pharynx7 / 41328169
pituitary gland2 / 16585120
placenta32 / 280825113
prostate9 / 18934547
salivary gland0 / 201550 
skin15 / 21057471
spleen0 / 539520 
stomach10 / 96619103
testis11 / 33044233
thymus1 / 8113112
thyroid4 / 4747384
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord2 / 13680146
uterus13 / 23287855
vascular3 / 5178057
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P70867
  • 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
Amygdala8.53 ± 0.3
Basal Forebrain8.61 ± 0.14
Basal Part of Pons8.55 ± 0.23
Cerebellar Cortex8.47 ± 0.17
Cerebellar Nuclei8.85 ± 0.42
Claustrum8.51 ± 0.17
Epithalamus8.61 ± 0.45
Frontal Lobe8.71 ± 0.24
Globus Pallidus9.33 ± 0.19
Hypothalamus8.85 ± 0.18
Insula8.68 ± 0.24
Limbic Lobe8.61 ± 0.3
Mesencephalon8.78 ± 0.28
Myelencephalon8.66 ± 0.3
Occipital Lobe8.55 ± 0.36
Parietal Lobe8.64 ± 0.25
Pontine Tegmentum8.7 ± 0.26
Striatum8.72 ± 0.21
Subthalamus8.99 ± 0.26
Temporal Lobe8.6 ± 0.25
Thalamus8.68 ± 0.22
White Matter9.59 ± 0.21
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
SbdsCBCerebellum0
0
SbdsCTXCerebral cortex0
0
SbdsHIPHippocampal region0
0
SbdsHPFHippocampal formation0
0
SbdsHYHypothalamus0
0
SbdsLSXLateral septal complex0
0
SbdsMBMidbrain0
0
SbdsMYMedulla0
0
SbdsOLFOlfactory bulb0
0
SbdsPPons0
0
SbdsPALPallidum0
0
SbdsRHPRetrohippocampal region0
0
SbdssAMYStriatum-like amygdalar nuclei0
0
SbdsSTRStriatum0
0
SbdsSTRdStriatum dorsal region0
0
SbdsSTRvStriatum ventral region0
0
SbdsTHThalamus0
0
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00001639 16 110 125 DIATIVADKCVNPETK Peptide Atlas
SBDS_HUMAN_1 10 1 10 SIFTPTNQIR PRIDE
SBDS_HUMAN_101 9 101 109 HTQLEQMFR PRIDE
SBDS_HUMAN_11 8 11 18 LTNVAVVR PRIDE
SBDS_HUMAN_2 10 2 11 SIFTPTNQIR 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