AutismKB 2.0

Annotation Detail for DENND1B


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Basic Information Top
Gene Symbol:DENND1B ( C1ORF18,C1orf218,DKFZp547O0715,FAM31B,FLJ20054,FLJ21179,FLJ33888,MGC103810,MGC27044 )
Gene Full Name: DENN/MADD domain containing 1B
Band: 1q31.3
Quick LinksEntrez ID:163486; OMIM: 613292; Uniprot ID:DEN1B_HUMAN; ENSEMBL ID: ENSG00000213047; HGNC ID: 28404
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
blastocyst0 / 623190 
fetus16 / 56401228
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult46 / 193912123
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor1 / 1729057
gastrointestinal tumor2 / 11936916
germ cell tumor1 / 2638453
glioma0 / 1068830 
head and neck tumor3 / 13630222
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor3 / 9635931
lung tumor0 / 1031270 
lymphoma2 / 7175527
non-neoplasia2 / 9725020
normal73 / 336030721
ovarian tumor2 / 7668226
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer3 / 10268029
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder3 / 29757100
blood4 / 12347832
bone0 / 716550 
bone marrow5 / 48801102
brain10 / 11009899
cervix0 / 481710 
connective tissue5 / 14925533
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus1 / 2020949
eye1 / 2110544
heart0 / 896260 
intestine4 / 23447217
kidney6 / 21177728
larynx0 / 241450 
liver5 / 20774324
lung1 / 3369742
lymph2 / 4427045
lymph node9 / 9161098
mammary gland4 / 15327126
mouth3 / 6705244
muscle5 / 10771546
nerve1 / 1576863
ovary3 / 10205129
pancreas1 / 2148124
parathyroid2 / 2053997
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta5 / 28082517
prostate4 / 18934521
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach6 / 9661962
testis3 / 3304429
thymus6 / 8113173
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus4 / 23287817
vascular3 / 5178057
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_9233_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
Amygdala4.63 ± 0.35
Basal Forebrain4.34 ± 0.38
Basal Part of Pons3.85 ± 0.61
Cerebellar Cortex4.14 ± 0.37
Cerebellar Nuclei4.11 ± 0.56
Claustrum4.22 ± 0.77
Epithalamus4.67 ± 0.38
Frontal Lobe4.23 ± 0.49
Globus Pallidus4.75 ± 0.3
Hypothalamus4.12 ± 0.59
Insula4.37 ± 0.19
Limbic Lobe4.28 ± 0.53
Mesencephalon4.51 ± 0.58
Myelencephalon4.38 ± 0.53
Occipital Lobe4.72 ± 0.5
Parietal Lobe4.44 ± 0.47
Pontine Tegmentum4.44 ± 0.51
Striatum5.55 ± 0.38
Subthalamus4.1 ± 0.37
Temporal Lobe4.3 ± 0.41
Thalamus4.41 ± 0.44
White Matter3.24 ± 0.24
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
BC042698CBCerebellum4.12
3.8
BC042698CTXCerebral cortex8.52
5.5
BC042698HIPHippocampal region13.62
12.25
BC042698HPFHippocampal formation14.7
11.5
BC042698HYHypothalamus17.72
11.8
BC042698LSXLateral septal complex4.09
2.29
BC042698MBMidbrain19.19
14.21
BC042698MYMedulla18.19
14.92
BC042698OLFOlfactory bulb11.21
9.93
BC042698PPons19.31
15.02
BC042698PALPallidum15
11.27
BC042698RHPRetrohippocampal region17.36
10.89
BC042698sAMYStriatum-like amygdalar nuclei9.19
5.78
BC042698STRStriatum3.44
2.22
BC042698STRdStriatum dorsal region1.74
1.16
BC042698STRvStriatum ventral region6.5
4.07
BC042698THThalamus13.4
9.09
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