AutismKB 2.0

Annotation Detail for LRRCC1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:LRRCC1 ( CLERC,KIAA1764,SAP2 )
Gene Full Name: leucine rich repeat and coiled-coil domain containing 1
Band: 8q21.2
Quick LinksEntrez ID:85444; OMIM: NA; Uniprot ID:LRCC1_HUMAN; ENSEMBL ID: ENSG00000133739; HGNC ID: 29373
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 body4 / 7076156
blastocyst2 / 6231932
fetus5 / 5640128
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult22 / 193912111
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 tumor1 / 3436629
chondrosarcoma1 / 8282312
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor4 / 26384515
glioma0 / 1068830 
head and neck tumor2 / 13630214
kidney tumor3 / 6895943
leukemia2 / 9584220
liver tumor0 / 963590 
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal50 / 336030714
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer2 / 10268019
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor2 / 9025722
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 
blood2 / 12347816
bone0 / 716550 
bone marrow1 / 4880120
brain26 / 110098923
cervix1 / 4817120
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue9 / 21572241
esophagus0 / 202090 
eye4 / 21105418
heart0 / 896260 
intestine6 / 23447225
kidney3 / 21177714
larynx0 / 241450 
liver0 / 2077430 
lung5 / 33697414
lymph0 / 442700 
lymph node3 / 9161032
mammary gland0 / 1532710 
mouth2 / 6705229
muscle1 / 1077159
nerve1 / 1576863
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate2 / 18934510
salivary gland0 / 201550 
skin1 / 2105744
spleen1 / 5395218
stomach1 / 9661910
testis25 / 33044275
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus2 / 2328788
vascular2 / 5178038
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P157527
  • 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
Amygdala4.51 ± 0.64
Basal Forebrain4.48 ± 0.53
Basal Part of Pons4.62 ± 0.36
Cerebellar Cortex3.91 ± 0.37
Cerebellar Nuclei4.82 ± 0.63
Claustrum4 ± 0.85
Epithalamus5.36 ± 0.49
Frontal Lobe4.48 ± 0.6
Globus Pallidus6 ± 0.34
Hypothalamus4.56 ± 0.54
Insula4.57 ± 0.19
Limbic Lobe4.23 ± 0.62
Mesencephalon4.51 ± 0.62
Myelencephalon4.45 ± 0.6
Occipital Lobe4.45 ± 0.47
Parietal Lobe4.49 ± 0.41
Pontine Tegmentum4.51 ± 0.68
Striatum4.99 ± 0.49
Subthalamus4.65 ± 0.56
Temporal Lobe4.38 ± 0.56
Thalamus4.5 ± 0.52
White Matter5.87 ± 0.6
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Lrrcc1CBCerebellum8.61
9.1
Lrrcc1CTXCerebral cortex7.67
5.48
Lrrcc1HIPHippocampal region5.72
5.18
Lrrcc1HPFHippocampal formation4.95
3.98
Lrrcc1HYHypothalamus3.29
2.48
Lrrcc1LSXLateral septal complex2.62
1.7
Lrrcc1MBMidbrain7.03
6.22
Lrrcc1MYMedulla11.24
11.12
Lrrcc1OLFOlfactory bulb6.17
3.89
Lrrcc1PPons6.83
6.8
Lrrcc1PALPallidum6.15
5.68
Lrrcc1RHPRetrohippocampal region3.67
2.35
Lrrcc1sAMYStriatum-like amygdalar nuclei8.85
5.91
Lrrcc1STRStriatum2.78
1.99
Lrrcc1STRdStriatum dorsal region2.47
1.91
Lrrcc1STRvStriatum ventral region1.58
0.98
Lrrcc1THThalamus3.67
2.96
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