AutismKB 2.0

Annotation Detail for C1orf173


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Basic Information Top
Gene Symbol:C1orf173 ( DKFZp547I048,DKFZp761G1720,DKFZp781L0319,MGC90412,RP11-653A5.1 )
Gene Full Name: chromosome 1 open reading frame 173
Band: 1p31.1
Quick LinksEntrez ID:127254; OMIM: NA; Uniprot ID:CA173_HUMAN; ENSEMBL ID: ENSG00000178965; 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 
fetus10 / 56401217
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult35 / 193912118
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 tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia4 / 9725041
normal66 / 336030719
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 tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain26 / 110098923
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye1 / 2110544
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung9 / 33697426
lymph0 / 442700 
lymph node0 / 916100 
mammary gland3 / 15327119
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland2 / 16585120
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis31 / 33044293
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
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_24_P634867
  • 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
Amygdala8.55 ± 0.42
Basal Forebrain7.67 ± 0.4
Basal Part of Pons7.71 ± 0.35
Cerebellar Cortex7.74 ± 0.18
Cerebellar Nuclei6.47 ± 0.69
Claustrum8.19 ± 0.41
Epithalamus8.24 ± 0.52
Frontal Lobe7.86 ± 0.6
Globus Pallidus5.71 ± 0.91
Hypothalamus7.76 ± 0.44
Insula8.44 ± 0.22
Limbic Lobe8.49 ± 0.56
Mesencephalon7.63 ± 0.74
Myelencephalon7.77 ± 0.69
Occipital Lobe7.44 ± 0.64
Parietal Lobe7.8 ± 0.49
Pontine Tegmentum7.88 ± 0.76
Striatum8.41 ± 0.5
Subthalamus7.43 ± 0.1
Temporal Lobe8.12 ± 0.42
Thalamus7.27 ± 0.46
White Matter5.03 ± 0.69
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
BC007180CBCerebellum3.25
3.87
BC007180CTXCerebral cortex3.29
2.61
BC007180HIPHippocampal region3.42
3.31
BC007180HPFHippocampal formation6.93
5.93
BC007180HYHypothalamus2.11
1.37
BC007180LSXLateral septal complex1.64
1.23
BC007180MBMidbrain3.01
2.81
BC007180MYMedulla4.45
4.46
BC007180OLFOlfactory bulb7.4
5.92
BC007180PPons3.42
3.23
BC007180PALPallidum1.92
1.32
BC007180RHPRetrohippocampal region13.17
9.87
BC007180sAMYStriatum-like amygdalar nuclei1.63
1.18
BC007180STRStriatum1.53
0.99
BC007180STRdStriatum dorsal region1.34
0.88
BC007180STRvStriatum ventral region1.95
1.1
BC007180THThalamus2.39
1.79
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