AutismKB 2.0

Annotation Detail for C9orf69


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:C9orf69 ( bA83N9.1 )
Gene Full Name: chromosome 9 open reading frame 69
Band: 9q34.3
Quick LinksEntrez ID:90120; OMIM: NA; Uniprot ID:; ENSEMBL ID: ; 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 
blastocyst5 / 6231980
fetus11 / 56401219
neonate1 / 3109732
infant1 / 2362042
juvenile0 / 555560 
adult77 / 193912139
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) tumor5 / 9417853
cervical tumor3 / 3436687
chondrosarcoma4 / 8282348
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor10 / 11936983
germ cell tumor29 / 263845109
glioma17 / 106883159
head and neck tumor1 / 1363027
kidney tumor5 / 6895972
leukemia7 / 9584273
liver tumor1 / 9635910
lung tumor9 / 10312787
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal102 / 336030730
ovarian tumor9 / 76682117
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer2 / 10268019
retinoblastoma0 / 463560 
skin tumor14 / 124949112
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 
ascites0 / 400150 
bladder1 / 2975733
blood2 / 12347816
bone2 / 7165527
bone marrow4 / 4880181
brain45 / 110098940
cervix5 / 48171103
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue8 / 21572237
esophagus0 / 202090 
eye18 / 21105485
heart0 / 896260 
intestine12 / 23447251
kidney6 / 21177728
larynx1 / 2414541
liver3 / 20774314
lung17 / 33697450
lymph0 / 442700 
lymph node6 / 9161065
mammary gland7 / 15327145
mouth0 / 670520 
muscle4 / 10771537
nerve0 / 157680 
ovary12 / 102051117
pancreas8 / 21481237
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta14 / 28082549
prostate13 / 18934568
salivary gland0 / 201550 
skin17 / 21057480
spleen1 / 5395218
stomach8 / 9661982
testis21 / 33044263
thymus2 / 8113124
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus5 / 23287821
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_P398372
  • 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
Amygdala6.08 ± 0.52
Basal Forebrain5.68 ± 0.24
Basal Part of Pons6.38 ± 0.38
Cerebellar Cortex5.93 ± 0.33
Cerebellar Nuclei5.71 ± 0.58
Claustrum5.72 ± 0.65
Epithalamus5.21 ± 0.62
Frontal Lobe6.05 ± 0.46
Globus Pallidus4.59 ± 0.37
Hypothalamus5.19 ± 0.77
Insula6.12 ± 0.26
Limbic Lobe6.26 ± 0.45
Mesencephalon5.7 ± 0.47
Myelencephalon5.98 ± 0.55
Occipital Lobe6.05 ± 0.49
Parietal Lobe6.12 ± 0.51
Pontine Tegmentum5.88 ± 0.45
Striatum6.17 ± 0.51
Subthalamus5.73 ± 0.23
Temporal Lobe6.16 ± 0.45
Thalamus5.86 ± 0.36
White Matter4.67 ± 0.57
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