AutismKB 2.0

Annotation Detail for RCSD1


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Basic Information Top
Gene Symbol:RCSD1 ( CAPZIP,MGC126585,MGC126611,MGC21854,MK2S4 )
Gene Full Name: RCSD domain containing 1
Band: 1q24.2
Quick LinksEntrez ID:92241; OMIM: 610579; Uniprot ID:CPZIP_HUMAN; ENSEMBL ID: ENSG00000198771; HGNC ID: 28310
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 
fetus20 / 56401235
neonate0 / 310970 
infant0 / 236200 
juvenile3 / 5555653
adult47 / 193912124
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 
chondrosarcoma3 / 8282336
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor8 / 26384530
glioma1 / 1068839
head and neck tumor2 / 13630214
kidney tumor0 / 689590 
leukemia21 / 95842219
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma15 / 71755209
non-neoplasia2 / 9725020
normal84 / 336030724
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor2 / 12519115
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 
ascites2 / 4001549
bladder0 / 297570 
blood14 / 123478113
bone0 / 716550 
bone marrow3 / 4880161
brain8 / 11009897
cervix0 / 481710 
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye3 / 21105414
heart3 / 8962633
intestine2 / 2344728
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung8 / 33697423
lymph9 / 44270203
lymph node24 / 91610261
mammary gland4 / 15327126
mouth2 / 6705229
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta3 / 28082510
prostate3 / 18934515
salivary gland0 / 201550 
skin1 / 2105744
spleen4 / 5395274
stomach0 / 966190 
testis1 / 3304423
thymus7 / 8113186
thyroid0 / 474730 
tonsil5 / 16999294
trachea0 / 524130 
umbilical cord0 / 136800 
uterus2 / 2328788
vascular3 / 5178057
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_9986_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
Amygdala5.29 ± 0.48
Basal Forebrain5.15 ± 0.45
Basal Part of Pons5.16 ± 0.41
Cerebellar Cortex4.83 ± 0.45
Cerebellar Nuclei5.34 ± 0.45
Claustrum5.09 ± 0.73
Epithalamus4.72 ± 0.39
Frontal Lobe5.05 ± 0.54
Globus Pallidus5.58 ± 0.43
Hypothalamus5.01 ± 0.51
Insula5.04 ± 0.29
Limbic Lobe5.13 ± 0.56
Mesencephalon5.25 ± 0.51
Myelencephalon5.19 ± 0.46
Occipital Lobe5.21 ± 0.54
Parietal Lobe5.25 ± 0.51
Pontine Tegmentum5.08 ± 0.64
Striatum5.61 ± 0.43
Subthalamus5.32 ± 0.29
Temporal Lobe5.24 ± 0.5
Thalamus5.13 ± 0.47
White Matter5.05 ± 0.25
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Rcsd1CBCerebellum10.56
11.51
Rcsd1CTXCerebral cortex23.65
15.33
Rcsd1HIPHippocampal region14.7
12.79
Rcsd1HPFHippocampal formation19.15
14.91
Rcsd1HYHypothalamus12.03
8.48
Rcsd1LSXLateral septal complex12.72
9.87
Rcsd1MBMidbrain10.54
9.82
Rcsd1MYMedulla20.75
19.67
Rcsd1OLFOlfactory bulb33.82
25.14
Rcsd1PPons17.04
16.93
Rcsd1PALPallidum11.86
9.47
Rcsd1RHPRetrohippocampal region27.26
18.53
Rcsd1sAMYStriatum-like amygdalar nuclei20.03
13.36
Rcsd1STRStriatum13.95
9.41
Rcsd1STRdStriatum dorsal region11.64
7.41
Rcsd1STRvStriatum ventral region18.69
12.75
Rcsd1THThalamus41.92
32
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
CPZIP_HUMAN_57 20 57 76 VDLGQNGEEKSPPNASHPPK PRIDE
PAp00007420 27 132 158 SRPSEAEEVPVSFDQPPEGSHLPCYNK 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