AutismKB 2.0

Annotation Detail for SSC5D


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Basic Information Top
Gene Symbol:SSC5D ( - )
Gene Full Name: -
Band: 19q13.42
Quick LinksEntrez ID:284297; OMIM: NA; Uniprot ID:B5MDQ5_HUMAN; ENSEMBL ID: ENSG00000179954; HGNC ID: 26641
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 body1 / 7076114
blastocyst0 / 623190 
fetus7 / 56401212
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult19 / 19391219
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 
chondrosarcoma2 / 8282324
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor2 / 2638457
glioma1 / 1068839
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal25 / 33603077
ovarian tumor0 / 766820 
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor1 / 1249498
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 tissue2 / 13106152
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone3 / 7165541
bone marrow0 / 488010 
brain5 / 11009894
cervix0 / 481710 
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye1 / 2110544
heart3 / 8962633
intestine3 / 23447212
kidney1 / 2117774
larynx0 / 241450 
liver0 / 2077430 
lung2 / 3369745
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary0 / 1020510 
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate2 / 18934510
salivary gland0 / 201550 
skin1 / 2105744
spleen2 / 5395237
stomach2 / 9661920
testis1 / 3304423
thymus0 / 811310 
thyroid0 / 474730 
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_1124_PI416573500
  • 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
Amygdala2.74 ± 1.15
Basal Forebrain2.3 ± 0.33
Basal Part of Pons2.38 ± 0.56
Cerebellar Cortex2.07 ± 0.81
Cerebellar Nuclei2.61 ± 0.93
Claustrum2.94 ± 1.05
Epithalamus2.2 ± 0.64
Frontal Lobe2.16 ± 0.77
Globus Pallidus3.13 ± 0.53
Hypothalamus2.36 ± 0.89
Insula2.14 ± 0.73
Limbic Lobe2.32 ± 0.87
Mesencephalon2.49 ± 0.96
Myelencephalon2.35 ± 0.84
Occipital Lobe2.41 ± 0.85
Parietal Lobe2.37 ± 1.05
Pontine Tegmentum2.46 ± 0.91
Striatum3.09 ± 0.75
Subthalamus2.73 ± 0.76
Temporal Lobe2.21 ± 0.86
Thalamus2.39 ± 0.8
White Matter2.35 ± 0.4
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
A430110N23RikCBCerebellum0
0
A430110N23RikCTXCerebral cortex0
0
A430110N23RikHIPHippocampal region0
0
A430110N23RikHPFHippocampal formation0
0
A430110N23RikHYHypothalamus0
0
A430110N23RikLSXLateral septal complex0
0
A430110N23RikMBMidbrain0
0
A430110N23RikMYMedulla0
0
A430110N23RikOLFOlfactory bulb0
0
A430110N23RikPPons0
0
A430110N23RikPALPallidum0
0
A430110N23RikRHPRetrohippocampal region0
0
A430110N23RiksAMYStriatum-like amygdalar nuclei0
0
A430110N23RikSTRStriatum0
0
A430110N23RikSTRdStriatum dorsal region0
0
A430110N23RikSTRvStriatum ventral region0
0
A430110N23RikTHThalamus0
0
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00445967 15 1519 1533 QALLLGLTQLVEAAR 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