AutismKB 2.0

Annotation Detail for C14orf49


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Basic Information Top
Gene Symbol:C14orf49 ( FLJ25605,MGC75267,NET53 )
Gene Full Name: chromosome 14 open reading frame 49
Band: 14q32.13
Quick LinksEntrez ID:161176; OMIM: 610861; Uniprot ID:SYNE3_HUMAN; ENSEMBL ID: ENSG00000176438; 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 
blastocyst0 / 623190 
fetus0 / 5640120 
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult3 / 19391211
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor2 / 13630214
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma3 / 7175541
non-neoplasia2 / 9725020
normal7 / 33603072
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 tumor1 / 1251917
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood1 / 1234788
bone1 / 7165513
bone marrow0 / 488010 
brain1 / 11009890 
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye2 / 2110549
heart0 / 896260 
intestine1 / 2344724
kidney0 / 2117770 
larynx1 / 2414541
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node1 / 9161010
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve2 / 15768126
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus1 / 2328784
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_10029_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
Amygdala4.1 ± 0.96
Basal Forebrain4.12 ± 0.41
Basal Part of Pons3.92 ± 0.54
Cerebellar Cortex3.66 ± 0.55
Cerebellar Nuclei4.35 ± 0.6
Claustrum4.62 ± 0.81
Epithalamus4.62 ± 0.27
Frontal Lobe3.75 ± 0.8
Globus Pallidus5.73 ± 0.2
Hypothalamus4.04 ± 0.6
Insula3.67 ± 0.68
Limbic Lobe3.87 ± 0.87
Mesencephalon4.13 ± 0.91
Myelencephalon4.08 ± 0.75
Occipital Lobe4.17 ± 0.59
Parietal Lobe3.86 ± 0.73
Pontine Tegmentum4.18 ± 0.72
Striatum4.56 ± 0.82
Subthalamus4.16 ± 0.04
Temporal Lobe3.86 ± 0.68
Thalamus4.19 ± 0.58
White Matter6.23 ± 0.46
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
4831426I19RikCBCerebellum2.89
3.66
4831426I19RikCTXCerebral cortex1.61
1.89
4831426I19RikHIPHippocampal region0.89
1.11
4831426I19RikHPFHippocampal formation0.8
1
4831426I19RikHYHypothalamus0.84
1.2
4831426I19RikLSXLateral septal complex0.42
0.76
4831426I19RikMBMidbrain0.88
1.07
4831426I19RikMYMedulla9.11
11.72
4831426I19RikOLFOlfactory bulb1.72
1.57
4831426I19RikPPons1.67
1.81
4831426I19RikPALPallidum0.68
0.72
4831426I19RikRHPRetrohippocampal region0.57
0.7
4831426I19RiksAMYStriatum-like amygdalar nuclei1.56
1.38
4831426I19RikSTRStriatum3.61
4.66
4831426I19RikSTRdStriatum dorsal region5.49
7.37
4831426I19RikSTRvStriatum ventral region0.9
0.89
4831426I19RikTHThalamus0.79
0.75
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