AutismKB 2.0

Annotation Detail for C17orf28


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Basic Information Top
Gene Symbol:C17orf28 ( DMC1,FLJ43526 )
Gene Full Name: chromosome 17 open reading frame 28
Band: 17q25.1
Quick LinksEntrez ID:283987; OMIM: 605752; Uniprot ID:CQ028_HUMAN; ENSEMBL ID: ENSG00000167861; 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
blastocyst0 / 623190 
fetus38 / 56401267
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult145 / 193912174
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) tumor12 / 94178127
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor9 / 11936975
germ cell tumor4 / 26384515
glioma2 / 10688318
head and neck tumor0 / 1363020 
kidney tumor2 / 6895929
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor3 / 10312729
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal269 / 336030780
ovarian tumor5 / 7668265
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer20 / 102680194
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
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 
ascites1 / 4001524
bladder4 / 29757134
blood0 / 1234780 
bone3 / 7165541
bone marrow0 / 488010 
brain159 / 1100989144
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus1 / 2020949
eye17 / 21105480
heart0 / 896260 
intestine12 / 23447251
kidney2 / 2117779
larynx0 / 241450 
liver2 / 2077439
lung11 / 33697432
lymph0 / 442700 
lymph node0 / 916100 
mammary gland19 / 153271123
mouth1 / 6705214
muscle3 / 10771527
nerve3 / 15768190
ovary5 / 10205148
pancreas12 / 21481255
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta29 / 280825103
prostate30 / 189345158
salivary gland0 / 201550 
skin0 / 2105740 
spleen3 / 5395255
stomach14 / 96619144
testis8 / 33044224
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea12 / 52413228
umbilical cord1 / 1368073
uterus8 / 23287834
vascular1 / 5178019
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P350186
  • 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
Amygdala6.05 ± 0.52
Basal Forebrain6.17 ± 0.24
Basal Part of Pons5.81 ± 0.32
Cerebellar Cortex6.15 ± 0.27
Cerebellar Nuclei5.78 ± 0.36
Claustrum6.41 ± 0.65
Epithalamus5.12 ± 0.4
Frontal Lobe5.63 ± 0.38
Globus Pallidus6.28 ± 0.34
Hypothalamus5.63 ± 0.48
Insula5.58 ± 0.36
Limbic Lobe6.19 ± 0.53
Mesencephalon6.03 ± 0.46
Myelencephalon5.92 ± 0.49
Occipital Lobe6.32 ± 0.65
Parietal Lobe5.88 ± 0.45
Pontine Tegmentum5.72 ± 0.48
Striatum5.82 ± 0.61
Subthalamus5.76 ± 0.43
Temporal Lobe5.77 ± 0.4
Thalamus5.84 ± 0.47
White Matter6.67 ± 0.36
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
C630004H02RikCBCerebellum14.89
20.5
C630004H02RikCTXCerebral cortex95.13
97.05
C630004H02RikHIPHippocampal region79.41
100
C630004H02RikHPFHippocampal formation70.48
98.76
C630004H02RikHYHypothalamus37.34
34.46
C630004H02RikLSXLateral septal complex21.61
17.32
C630004H02RikMBMidbrain34.86
35.75
C630004H02RikMYMedulla24.76
31.21
C630004H02RikOLFOlfactory bulb57.09
54.93
C630004H02RikPPons24.18
29.2
C630004H02RikPALPallidum27.03
27.31
C630004H02RikRHPRetrohippocampal region56.56
57.39
C630004H02RiksAMYStriatum-like amygdalar nuclei26.69
22.72
C630004H02RikSTRStriatum21.04
17.48
C630004H02RikSTRdStriatum dorsal region15.23
12.55
C630004H02RikSTRvStriatum ventral region40.32
32.33
C630004H02RikTHThalamus30.66
27.69
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
CQ028_HUMAN_335 9 335 343 EEDFQFILK PRIDE
CQ028_HUMAN_385 7 385 391 FLFFVLK PRIDE
CQ028_HUMAN_469 8 469 476 IITSGHQR PRIDE
CQ028_HUMAN_640 17 640 656 SLEPEPQQSLEDGSPAK PRIDE
CQ028_HUMAN_716 10 716 725 GLTDESEILR PRIDE
CQ028_HUMAN_747 12 747 758 YQANSGTAMWFR PRIDE
CQ028_HUMAN_769 13 769 781 NVDPPVWYDTDVK PRIDE
CQ028_HUMAN_782 6 782 787 LFEIQR PRIDE
PAp00531805 19 392 410 SSDVLDILVPILFFLNDAR 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


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