AutismKB 2.0

Annotation Detail for CYB5D2


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Basic Information Top
Gene Symbol:CYB5D2 ( MGC32124 )
Gene Full Name: cytochrome b5 domain containing 2
Band: 17p13.2
Quick LinksEntrez ID:124936; OMIM: NA; Uniprot ID:NEUFC_HUMAN; ENSEMBL ID: ENSG00000167740; HGNC ID: 28471
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
blastocyst1 / 6231916
fetus46 / 56401281
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult66 / 193912134
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor3 / 9417831
cervical tumor1 / 3436629
chondrosarcoma1 / 8282312
colorectal tumor2 / 11424617
esophageal tumor3 / 17290173
gastrointestinal tumor5 / 11936941
germ cell tumor2 / 2638457
glioma4 / 10688337
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia4 / 9584241
liver tumor4 / 9635941
lung tumor2 / 10312719
lymphoma1 / 7175513
non-neoplasia0 / 972500 
normal131 / 336030738
ovarian tumor2 / 7668226
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer6 / 10268058
retinoblastoma0 / 463560 
skin tumor5 / 12494940
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites4 / 4001599
bladder0 / 297570 
blood4 / 12347832
bone2 / 7165527
bone marrow0 / 488010 
brain40 / 110098936
cervix1 / 4817120
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus3 / 20209148
eye5 / 21105423
heart2 / 8962622
intestine10 / 23447242
kidney4 / 21177718
larynx0 / 241450 
liver9 / 20774343
lung14 / 33697441
lymph1 / 4427022
lymph node0 / 916100 
mammary gland3 / 15327119
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary2 / 10205119
pancreas9 / 21481241
parathyroid4 / 20539194
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta11 / 28082539
prostate9 / 18934547
salivary gland0 / 201550 
skin7 / 21057433
spleen0 / 539520 
stomach1 / 9661910
testis13 / 33044239
thymus1 / 8113112
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus3 / 23287812
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P341392
  • 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
Amygdala7.63 ± 0.47
Basal Forebrain7.95 ± 0.27
Basal Part of Pons8.25 ± 0.27
Cerebellar Cortex7.59 ± 0.17
Cerebellar Nuclei8.24 ± 0.21
Claustrum7.63 ± 0.48
Epithalamus8.59 ± 0.35
Frontal Lobe8.19 ± 0.29
Globus Pallidus8.3 ± 0.26
Hypothalamus8.49 ± 0.22
Insula8.3 ± 0.38
Limbic Lobe7.81 ± 0.49
Mesencephalon7.92 ± 0.33
Myelencephalon7.98 ± 0.41
Occipital Lobe7.49 ± 0.44
Parietal Lobe7.94 ± 0.34
Pontine Tegmentum8.04 ± 0.36
Striatum7.91 ± 0.43
Subthalamus8.16 ± 0.23
Temporal Lobe8.13 ± 0.33
Thalamus7.99 ± 0.3
White Matter8.37 ± 0.18
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Cyb5d2CBCerebellum4.5
5.76
Cyb5d2CTXCerebral cortex2.97
2.17
Cyb5d2HIPHippocampal region3.11
2.92
Cyb5d2HPFHippocampal formation2.93
2.91
Cyb5d2HYHypothalamus0.36
0.43
Cyb5d2LSXLateral septal complex0.52
0.6
Cyb5d2MBMidbrain0.64
1.01
Cyb5d2MYMedulla1.62
2.13
Cyb5d2OLFOlfactory bulb4.25
3.93
Cyb5d2PPons0.91
1.41
Cyb5d2PALPallidum1.5
1.19
Cyb5d2RHPRetrohippocampal region2.38
2.85
Cyb5d2sAMYStriatum-like amygdalar nuclei2.4
1.69
Cyb5d2STRStriatum1.89
1.37
Cyb5d2STRdStriatum dorsal region2.28
1.66
Cyb5d2STRvStriatum ventral region1.11
0.72
Cyb5d2THThalamus0.94
1.04
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