AutismKB 2.0

Annotation Detail for C9orf30


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Basic Information Top
Gene Symbol:C9orf30 ( FLJ34973,MGC17337 )
Gene Full Name: chromosome 9 open reading frame 30
Band: 9q31.1
Quick LinksEntrez ID:91283; OMIM: NA; Uniprot ID:CI030_HUMAN; ENSEMBL ID: ENSG00000066697; 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 body2 / 7076128
blastocyst1 / 6231916
fetus28 / 56401249
neonate2 / 3109764
infant0 / 236200 
juvenile2 / 5555635
adult59 / 193912130
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 tumor3 / 3436687
chondrosarcoma12 / 82823144
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor6 / 26384522
glioma4 / 10688337
head and neck tumor5 / 13630236
kidney tumor2 / 6895929
leukemia2 / 9584220
liver tumor0 / 963590 
lung tumor3 / 10312729
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal82 / 336030724
ovarian tumor1 / 7668213
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer1 / 1026809
retinoblastoma1 / 4635621
skin tumor5 / 12494940
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor1 / 9025711
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 
blood2 / 12347816
bone9 / 71655125
bone marrow0 / 488010 
brain16 / 110098914
cervix6 / 48171124
connective tissue10 / 14925566
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye6 / 21105428
heart1 / 8962611
intestine2 / 2344728
kidney7 / 21177733
larynx0 / 241450 
liver5 / 20774324
lung15 / 33697444
lymph0 / 442700 
lymph node3 / 9161032
mammary gland4 / 15327126
mouth6 / 6705289
muscle2 / 10771518
nerve0 / 157680 
ovary1 / 1020519
pancreas9 / 21481241
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate3 / 18934515
salivary gland0 / 201550 
skin7 / 21057433
spleen0 / 539520 
stomach2 / 9661920
testis8 / 33044224
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord2 / 13680146
uterus3 / 23287812
vascular3 / 5178057
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P146584
  • 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
Amygdala7.68 ± 0.27
Basal Forebrain7.54 ± 0.22
Basal Part of Pons7.61 ± 0.13
Cerebellar Cortex7.31 ± 0.21
Cerebellar Nuclei7.68 ± 0.28
Claustrum7.97 ± 0.31
Epithalamus7.22 ± 0.21
Frontal Lobe7.48 ± 0.26
Globus Pallidus7.74 ± 0.26
Hypothalamus7.32 ± 0.19
Insula7.43 ± 0.26
Limbic Lobe7.5 ± 0.34
Mesencephalon7.58 ± 0.35
Myelencephalon7.4 ± 0.29
Occipital Lobe7.58 ± 0.26
Parietal Lobe7.58 ± 0.29
Pontine Tegmentum7.44 ± 0.26
Striatum7.28 ± 0.25
Subthalamus7.75 ± 0.2
Temporal Lobe7.4 ± 0.26
Thalamus7.33 ± 0.21
White Matter7.62 ± 0.19
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
5730528L13RikCBCerebellum3.93
5.62
5730528L13RikCTXCerebral cortex6.3
5.63
5730528L13RikHIPHippocampal region4.17
4.55
5730528L13RikHPFHippocampal formation3.18
3.15
5730528L13RikHYHypothalamus4.83
4.35
5730528L13RikLSXLateral septal complex1.55
2.62
5730528L13RikMBMidbrain4.05
4.46
5730528L13RikMYMedulla12.03
13.94
5730528L13RikOLFOlfactory bulb6.57
4.66
5730528L13RikPPons7.27
8.38
5730528L13RikPALPallidum8.53
8.88
5730528L13RikRHPRetrohippocampal region1.36
1.07
5730528L13RiksAMYStriatum-like amygdalar nuclei0.63
0.77
5730528L13RikSTRStriatum4.36
3.83
5730528L13RikSTRdStriatum dorsal region3.76
3.71
5730528L13RikSTRvStriatum ventral region9.79
6.51
5730528L13RikTHThalamus5.44
5.8
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