AutismKB 2.0

Annotation Detail for C16orf75


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Basic Information Top
Gene Symbol:C16orf75 ( BLAP18,MGC24665,RMI2 )
Gene Full Name: chromosome 16 open reading frame 75
Band: 16p13.13
Quick LinksEntrez ID:116028; OMIM: 612426; Uniprot ID:RMI2_HUMAN; ENSEMBL ID: ENSG00000175643; 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 body3 / 7076142
blastocyst6 / 6231996
fetus19 / 56401233
neonate0 / 310970 
infant2 / 2362084
juvenile0 / 555560 
adult34 / 193912117
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 tumor2 / 3436658
chondrosarcoma3 / 8282336
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor7 / 26384526
glioma2 / 10688318
head and neck tumor8 / 13630258
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor1 / 1031279
lymphoma8 / 71755111
non-neoplasia0 / 972500 
normal50 / 336030714
ovarian tumor3 / 7668239
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS9 / 12568071
prostate cancer1 / 1026809
retinoblastoma1 / 4635621
skin tumor1 / 1249498
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone5 / 7165569
bone marrow0 / 488010 
brain6 / 11009895
cervix2 / 4817141
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue16 / 21572274
esophagus0 / 202090 
eye1 / 2110544
heart9 / 89626100
intestine7 / 23447229
kidney3 / 21177714
larynx0 / 241450 
liver2 / 2077439
lung7 / 33697420
lymph4 / 4427090
lymph node0 / 916100 
mammary gland3 / 15327119
mouth8 / 67052119
muscle2 / 10771518
nerve0 / 157680 
ovary4 / 10205139
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta4 / 28082514
prostate3 / 18934515
salivary gland2 / 2015599
skin1 / 2105744
spleen1 / 5395218
stomach1 / 9661910
testis1 / 3304423
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus4 / 23287817
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_11124_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
Amygdala5.28 ± 0.51
Basal Forebrain4.73 ± 0.65
Basal Part of Pons4.4 ± 0.64
Cerebellar Cortex4.24 ± 0.74
Cerebellar Nuclei4.46 ± 0.39
Claustrum5.34 ± 0.73
Epithalamus4.23 ± 1.11
Frontal Lobe4.56 ± 0.64
Globus Pallidus4.41 ± 0.58
Hypothalamus4.41 ± 0.59
Insula4.69 ± 0.35
Limbic Lobe4.94 ± 0.66
Mesencephalon4.49 ± 0.62
Myelencephalon4.69 ± 0.69
Occipital Lobe4.68 ± 0.61
Parietal Lobe4.66 ± 0.65
Pontine Tegmentum4.52 ± 0.53
Striatum4.45 ± 0.85
Subthalamus4.61 ± 0.29
Temporal Lobe4.84 ± 0.56
Thalamus4.29 ± 0.67
White Matter3.98 ± 0.71
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