AutismKB 2.0

Annotation Detail for CMYA5


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Basic Information Top
Gene Symbol:CMYA5 ( C5orf10,DKFZp451G182,DKFZp451G223,SPRYD2,TRIM76 )
Gene Full Name: cardiomyopathy associated 5
Band: 5q14.1
Quick LinksEntrez ID:202333; OMIM: 612193; Uniprot ID:CMYA5_HUMAN; ENSEMBL ID: ENSG00000164309; HGNC ID: 14305
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 
fetus42 / 56401274
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult80 / 193912141
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) tumor7 / 9417874
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma1 / 1068839
head and neck tumor3 / 13630222
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal145 / 336030743
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 tumor0 / 902570 
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 
bone1 / 7165513
bone marrow0 / 488010 
brain16 / 110098914
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye1 / 2110544
heart35 / 89626390
intestine2 / 2344728
kidney3 / 21177714
larynx1 / 2414541
liver15 / 20774372
lung5 / 33697414
lymph0 / 442700 
lymph node0 / 916100 
mammary gland9 / 15327158
mouth5 / 6705274
muscle70 / 107715649
nerve2 / 15768126
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta2 / 2808257
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid2 / 4747342
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus5 / 23287821
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_P925413
  • 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
Amygdala5.31 ± 0.47
Basal Forebrain5.44 ± 0.39
Basal Part of Pons4.42 ± 0.33
Cerebellar Cortex4.72 ± 0.45
Cerebellar Nuclei5.03 ± 0.44
Claustrum5.4 ± 0.58
Epithalamus4.86 ± 0.7
Frontal Lobe4.82 ± 0.5
Globus Pallidus6.2 ± 0.26
Hypothalamus4.81 ± 0.42
Insula4.84 ± 0.37
Limbic Lobe4.86 ± 0.59
Mesencephalon5.3 ± 0.45
Myelencephalon5.11 ± 0.62
Occipital Lobe5.88 ± 0.8
Parietal Lobe5.24 ± 0.58
Pontine Tegmentum5.31 ± 0.55
Striatum5.39 ± 0.41
Subthalamus4.43 ± 0.67
Temporal Lobe4.81 ± 0.58
Thalamus5.33 ± 0.53
White Matter4.97 ± 0.27
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Cmya5PPons0.78
0.73
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
CMYA5_HUMAN_2537 15 2537 2551 GEEKENQVYVLSEGK PRIDE
CMYA5_HUMAN_800 25 800 824 YAAPLNATQESQKKIINEASQFKPK PRIDE

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