AutismKB 2.0

Annotation Detail for C17orf79


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:C17orf79 ( COPR5,FLJ21119,HSA272196,TTP1 )
Gene Full Name: chromosome 17 open reading frame 79
Band: 17q11.2
Quick LinksEntrez ID:55352; OMIM: NA; Uniprot ID:COPR5_HUMAN; ENSEMBL ID: ENSG00000172301; HGNC ID:
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 body0 / 707610 
blastocyst0 / 623190 
fetus6 / 56401210
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult102 / 193912152
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor3 / 9417831
cervical tumor1 / 3436629
chondrosarcoma6 / 8282372
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor6 / 11936950
germ cell tumor23 / 26384587
glioma12 / 106883112
head and neck tumor11 / 13630280
kidney tumor3 / 6895943
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor13 / 103127126
lymphoma1 / 7175513
non-neoplasia5 / 9725051
normal123 / 336030736
ovarian tumor6 / 7668278
pancreatic tumor16 / 104616152
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer12 / 102680116
retinoblastoma2 / 4635643
skin tumor6 / 12494948
soft tissue/muscle tissue tumor19 / 125191151
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites2 / 4001549
bladder0 / 297570 
blood0 / 1234780 
bone5 / 7165569
bone marrow0 / 488010 
brain53 / 110098948
cervix1 / 4817120
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye19 / 21105490
heart1 / 8962611
intestine2 / 2344728
kidney29 / 211777136
larynx0 / 241450 
liver1 / 2077434
lung22 / 33697465
lymph1 / 4427022
lymph node0 / 916100 
mammary gland3 / 15327119
mouth0 / 670520 
muscle2 / 10771518
nerve1 / 1576863
ovary7 / 10205168
pancreas28 / 214812130
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta11 / 28082539
prostate29 / 189345153
salivary gland8 / 20155396
skin9 / 21057442
spleen0 / 539520 
stomach5 / 9661951
testis19 / 33044257
thymus0 / 811310 
thyroid4 / 4747384
tonsil2 / 16999117
trachea0 / 524130 
umbilical cord0 / 136800 
uterus28 / 232878120
vascular1 / 5178019
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P130296
  • 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
Amygdala9.52 ± 0.47
Basal Forebrain9.77 ± 0.29
Basal Part of Pons10.27 ± 0.49
Cerebellar Cortex10.02 ± 0.37
Cerebellar Nuclei9.99 ± 0.34
Claustrum9.37 ± 0.73
Epithalamus10.41 ± 0.26
Frontal Lobe10.11 ± 0.39
Globus Pallidus9.38 ± 0.39
Hypothalamus10.55 ± 0.36
Insula10.2 ± 0.26
Limbic Lobe9.68 ± 0.69
Mesencephalon9.71 ± 0.5
Myelencephalon9.77 ± 0.66
Occipital Lobe9.09 ± 0.74
Parietal Lobe9.86 ± 0.48
Pontine Tegmentum9.82 ± 0.51
Striatum9.18 ± 0.56
Subthalamus10.2 ± 0.32
Temporal Lobe10.11 ± 0.44
Thalamus9.69 ± 0.45
White Matter8.28 ± 0.34
Mouse Brain ISH
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