AutismKB 2.0

Annotation Detail for C16orf91


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Basic Information Top
Gene Symbol:C16orf91 ( CCSMST1,MGC104723,gs103 )
Gene Full Name: chromosome 16 open reading frame 91
Band: 16p13.3
Quick LinksEntrez ID:283951; OMIM: NA; Uniprot ID:CSMT1_HUMAN; ENSEMBL ID: ENSG00000174109; HGNC ID: 27558
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 
adult53 / 193912127
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) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma11 / 82823132
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor6 / 11936950
germ cell tumor4 / 26384515
glioma4 / 10688337
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor9 / 10312787
lymphoma1 / 7175513
non-neoplasia1 / 9725010
normal52 / 336030715
ovarian tumor1 / 7668213
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer2 / 10268019
retinoblastoma1 / 4635621
skin tumor6 / 12494948
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites2 / 4001549
bladder1 / 2975733
blood0 / 1234780 
bone9 / 71655125
bone marrow1 / 4880120
brain14 / 110098912
cervix0 / 481710 
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye7 / 21105433
heart2 / 8962622
intestine8 / 23447234
kidney2 / 2117779
larynx0 / 241450 
liver0 / 2077430 
lung13 / 33697438
lymph1 / 4427022
lymph node4 / 9161043
mammary gland3 / 15327119
mouth0 / 670520 
muscle3 / 10771527
nerve0 / 157680 
ovary2 / 10205119
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta8 / 28082528
prostate4 / 18934521
salivary gland0 / 201550 
skin6 / 21057428
spleen0 / 539520 
stomach2 / 9661920
testis1 / 3304423
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus10 / 23287842
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_1058_PI416573500
  • 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
Amygdala2.59 ± 1.06
Basal Forebrain2.28 ± 0.62
Basal Part of Pons2.05 ± 0.43
Cerebellar Cortex2.51 ± 0.75
Cerebellar Nuclei2.59 ± 0.73
Claustrum3.09 ± 0.94
Epithalamus2.13 ± 0.63
Frontal Lobe2.13 ± 0.7
Globus Pallidus2.94 ± 0.67
Hypothalamus2.14 ± 0.79
Insula2.26 ± 1.04
Limbic Lobe2.4 ± 0.84
Mesencephalon2.32 ± 0.78
Myelencephalon2.37 ± 0.75
Occipital Lobe2.42 ± 0.82
Parietal Lobe2.32 ± 0.88
Pontine Tegmentum2.49 ± 0.92
Striatum2.56 ± 0.89
Subthalamus2.43 ± 0.64
Temporal Lobe2.26 ± 0.85
Thalamus2.37 ± 0.7
White Matter2.13 ± 0.15
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
BC003965CBCerebellum2.84
3.47
BC003965CTXCerebral cortex22.25
17.33
BC003965HIPHippocampal region15.47
17.78
BC003965HPFHippocampal formation11.94
12.45
BC003965HYHypothalamus0.48
0.63
BC003965LSXLateral septal complex5.21
7.23
BC003965MBMidbrain1.53
1.92
BC003965MYMedulla0.54
0.63
BC003965OLFOlfactory bulb18.62
15.53
BC003965PPons1.1
1.54
BC003965PALPallidum0.95
1.84
BC003965RHPRetrohippocampal region5.6
4.7
BC003965sAMYStriatum-like amygdalar nuclei0.72
0.53
BC003965STRStriatum2.04
1.65
BC003965STRdStriatum dorsal region1.24
0.93
BC003965STRvStriatum ventral region4.13
2.66
BC003965THThalamus1.61
1.65
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00039391 21 193 213 AHPAAEEEDDPDRPIEFSSSK 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