AutismKB 2.0

Annotation Detail for C7orf50


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Basic Information Top
Gene Symbol:C7orf50 ( MGC11257,YCR016W )
Gene Full Name: chromosome 7 open reading frame 50
Band: 7p22.3
Quick LinksEntrez ID:84310; OMIM: NA; Uniprot ID:CG050_HUMAN; ENSEMBL ID: ENSG00000146540; HGNC ID: 22421
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
blastocyst3 / 6231948
fetus16 / 56401228
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult123 / 193912163
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) tumor8 / 9417884
cervical tumor1 / 3436629
chondrosarcoma8 / 8282396
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor32 / 119369268
germ cell tumor20 / 26384575
glioma27 / 106883252
head and neck tumor12 / 13630288
kidney tumor4 / 6895958
leukemia3 / 9584231
liver tumor7 / 9635972
lung tumor26 / 103127252
lymphoma7 / 7175597
non-neoplasia4 / 9725041
normal159 / 336030747
ovarian tumor4 / 7668252
pancreatic tumor23 / 104616219
primitive neuroectodermal tumor of the CNS11 / 12568087
prostate cancer6 / 10268058
retinoblastoma4 / 4635686
skin tumor19 / 124949152
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites9 / 40015224
bladder0 / 297570 
blood4 / 12347832
bone7 / 7165597
bone marrow0 / 488010 
brain74 / 110098967
cervix2 / 4817141
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue19 / 21572288
esophagus0 / 202090 
eye22 / 211054104
heart3 / 8962633
intestine11 / 23447246
kidney12 / 21177756
larynx1 / 2414541
liver10 / 20774348
lung33 / 33697497
lymph3 / 4427067
lymph node4 / 9161043
mammary gland9 / 15327158
mouth1 / 6705214
muscle1 / 1077159
nerve0 / 157680 
ovary10 / 10205197
pancreas29 / 214812135
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta12 / 28082542
prostate24 / 189345126
salivary gland10 / 20155496
skin24 / 210574113
spleen1 / 5395218
stomach22 / 96619227
testis2 / 3304426
thymus3 / 8113136
thyroid1 / 4747321
tonsil2 / 16999117
trachea0 / 524130 
umbilical cord0 / 136800 
uterus11 / 23287847
vascular2 / 5178038
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P134477
  • 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
Amygdala8.37 ± 0.45
Basal Forebrain8.09 ± 0.22
Basal Part of Pons8.25 ± 0.27
Cerebellar Cortex8.01 ± 0.2
Cerebellar Nuclei7.98 ± 0.33
Claustrum8.13 ± 0.38
Epithalamus8.24 ± 0.39
Frontal Lobe8.28 ± 0.29
Globus Pallidus8.09 ± 0.4
Hypothalamus8.13 ± 0.25
Insula8.29 ± 0.23
Limbic Lobe8.25 ± 0.28
Mesencephalon8.13 ± 0.3
Myelencephalon8.22 ± 0.29
Occipital Lobe7.94 ± 0.23
Parietal Lobe8.23 ± 0.29
Pontine Tegmentum8.12 ± 0.28
Striatum8.03 ± 0.33
Subthalamus7.98 ± 0.34
Temporal Lobe8.37 ± 0.27
Thalamus8.11 ± 0.21
White Matter7.53 ± 0.16
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
3110082I17RikCBCerebellum2.05
2.86
3110082I17RikCTXCerebral cortex1.37
1.38
3110082I17RikHIPHippocampal region1.03
1.05
3110082I17RikHPFHippocampal formation1.31
1.27
3110082I17RikHYHypothalamus0.16
0.25
3110082I17RikLSXLateral septal complex0.2
0.19
3110082I17RikMBMidbrain0.68
0.97
3110082I17RikMYMedulla2.15
2.44
3110082I17RikOLFOlfactory bulb0.97
0.58
3110082I17RikPPons0.79
0.91
3110082I17RikPALPallidum0.95
0.79
3110082I17RikRHPRetrohippocampal region1.78
1.57
3110082I17RiksAMYStriatum-like amygdalar nuclei0.69
0.58
3110082I17RikSTRStriatum0.5
0.36
3110082I17RikSTRdStriatum dorsal region0.58
0.41
3110082I17RikSTRvStriatum ventral region0.17
0.12
3110082I17RikTHThalamus1.13
1.22
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00132753 12 84 95 EAGLVAQHPPAR 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