AutismKB 2.0

Annotation Detail for DST


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Basic Information Top
Gene Symbol:DST ( BP240,BPA,BPAG1,CATX-15,CATX15,D6S1101,DKFZp564B2416,DMH,DT,FLJ46791,KIAA0465,KIAA1470,MACF2 )
Gene Full Name: dystonin
Band: 6p12.1
Quick LinksEntrez ID:667; OMIM: 113810; Uniprot ID:DYST_HUMAN; ENSEMBL ID: ENSG00000151914; HGNC ID: 1090
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 body3 / 7076142
blastocyst3 / 6231948
fetus74 / 564012131
neonate0 / 310970 
infant0 / 236200 
juvenile5 / 5555689
adult340 / 1939121175
embryoid body0 / 707610 
blastocyst0 / 623190 
fetus0 / 5640120 
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult1 / 19391210 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma6 / 17475343
breast (mammary gland) tumor11 / 94178116
cervical tumor1 / 3436629
chondrosarcoma13 / 82823156
colorectal tumor13 / 114246113
esophageal tumor15 / 17290867
gastrointestinal tumor10 / 11936983
germ cell tumor3 / 26384511
glioma9 / 10688384
head and neck tumor32 / 136302234
kidney tumor6 / 6895987
leukemia1 / 9584210
liver tumor9 / 9635993
lung tumor7 / 10312767
lymphoma0 / 717550 
non-neoplasia18 / 97250185
normal517 / 3360307153
ovarian tumor4 / 7668252
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer1 / 1026809
retinoblastoma1 / 4635621
skin tumor11 / 12494988
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor23 / 90257254
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal1 / 33603070 
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 tissue3 / 13106228
adrenal gland3 / 3319790
ascites2 / 4001549
bladder12 / 29757403
blood1 / 1234788
bone14 / 71655195
bone marrow2 / 4880140
brain204 / 1100989185
cervix1 / 4817120
connective tissue11 / 14925573
ear4 / 16212246
embryonic tissue15 / 21572269
esophagus15 / 20209742
eye27 / 211054127
heart10 / 89626111
intestine31 / 234472132
kidney12 / 21177756
larynx5 / 24145207
liver32 / 207743154
lung43 / 336974127
lymph0 / 442700 
lymph node0 / 916100 
mammary gland31 / 153271202
mouth20 / 67052298
muscle27 / 107715250
nerve9 / 15768570
ovary11 / 102051107
pancreas22 / 214812102
parathyroid3 / 20539146
pharynx7 / 41328169
pituitary gland4 / 16585241
placenta34 / 280825121
prostate11 / 18934558
salivary gland3 / 20155148
skin26 / 210574123
spleen0 / 539520 
stomach6 / 9661962
testis20 / 33044260
thymus14 / 81131172
thyroid5 / 47473105
tonsil0 / 169990 
trachea17 / 52413324
umbilical cord0 / 136800 
uterus39 / 232878167
vascular3 / 5178057
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain1 / 11009890 
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212254_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts143.45
Adipocyte124.1
AdrenalCortex95.6
Adrenalgland56.3
Amygdala719.55
Appendix93.5
AtrioventricularNode37.15
BDCA4+_DentriticCells20.3
Bonemarrow6.3
BronchialEpithelialCells19.55
CD105+_Endothelial4.55
CD14+_Monocytes6.2
CD19+_BCells(neg._sel.)4.3
CD33+_Myeloid17.25
CD34+12.15
CD4+_Tcells4.8
CD56+_NKCells10
CD71+_EarlyErythroid4.4
CD8+_Tcells3.15
CardiacMyocytes18.75
Caudatenucleus443.15
Cerebellum68.55
CerebellumPeduncles125.75
CiliaryGanglion75.95
CingulateCortex381.9
Colorectaladenocarcinoma10.55
DorsalRootGanglion159.45
FetalThyroid23.5
Fetalbrain418.7
Fetalliver82.35
Fetallung332.8
GlobusPallidus184.2
Heart33.4
Hypothalamus1046.95
Kidney21.3
Leukemia_chronicMyelogenousK-5625.55
Leukemia_promyelocytic-HL-6046.9
Leukemialymphoblastic(MOLT-4)7.1
Liver20.35
Lung54.3
Lymphnode47.7
Lymphoma_burkitts(Daudi)15.05
Lymphoma_burkitts(Raji)92.7
MedullaOblongata489.2
OccipitalLobe550.35
OlfactoryBulb428.6
Ovary44.35
Pancreas41.35
PancreaticIslet110
ParietalLobe605.75
Pituitary228.75
Placenta12.6
Pons212.7
PrefrontalCortex1172.35
Prostate56.4
Salivarygland106.25
SkeletalMuscle32.3
Skin15.95
SmoothMuscle139.05
Spinalcord856.35
SubthalamicNucleus257.05
SuperiorCervicalGanglion43.6
TemporalLobe174.3
Testis24.6
TestisGermCell131.4
TestisIntersitial68.95
TestisLeydigCell54.85
TestisSeminiferousTubule46.65
Thalamus677.2
Thymus16.05
Thyroid73.6
Tongue57.85
Tonsil13.6
Trachea73.15
TrigeminalGanglion71.6
Uterus820.8
UterusCorpus283.7
WholeBlood6.3
Wholebrain122.85
colon107.7
pineal_day3348.5
pineal_night3435.24
retina509.425
small_intestine61.2
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P348159
  • 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
Amygdala6.61 ± 0.46
Basal Forebrain6.77 ± 0.4
Basal Part of Pons5.69 ± 0.31
Cerebellar Cortex6.03 ± 0.19
Cerebellar Nuclei6.04 ± 0.3
Claustrum6.7 ± 0.33
Epithalamus6.76 ± 0.31
Frontal Lobe6.15 ± 0.44
Globus Pallidus7.54 ± 0.25
Hypothalamus6.29 ± 0.47
Insula6.12 ± 0.26
Limbic Lobe6.35 ± 0.52
Mesencephalon6.53 ± 0.36
Myelencephalon6.43 ± 0.51
Occipital Lobe6.61 ± 0.51
Parietal Lobe6.32 ± 0.4
Pontine Tegmentum6.43 ± 0.34
Striatum6.8 ± 0.48
Subthalamus6.04 ± 0.39
Temporal Lobe6.16 ± 0.39
Thalamus6.39 ± 0.29
White Matter7.48 ± 0.29
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
DstCBCerebellum5.47
5.8
DstCTXCerebral cortex7.83
6.39
DstHIPHippocampal region5.11
5.04
DstHPFHippocampal formation7.31
6.27
DstHYHypothalamus1.09
0.74
DstLSXLateral septal complex0.94
0.95
DstMBMidbrain2.98
2.61
DstMYMedulla7.98
7.52
DstOLFOlfactory bulb10.03
7.93
DstPPons6.43
6.43
DstPALPallidum2.6
1.84
DstRHPRetrohippocampal region11.47
8.28
DstsAMYStriatum-like amygdalar nuclei1.08
0.59
DstSTRStriatum2.94
2.46
DstSTRdStriatum dorsal region3.31
2.83
DstSTRvStriatum ventral region3.21
2.47
DstTHThalamus6.6
7.46
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00011928 20 2019 2038 VNNSGISLCNLISAVTTPAK Peptide Atlas
Q9HDA7_HUMAN_0 1 0 0 YAEQYSATVK PRIDE
Q9HDA7_HUMAN_549 8 549 556 LIIAMLER 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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