AutismKB 2.0

Annotation Detail for CACHD1


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Basic Information Top
Gene Symbol:CACHD1 ( KIAA1573,RP4-655E10.1 )
Gene Full Name: cache domain containing 1
Band: 1p31.3
Quick LinksEntrez ID:57685; OMIM: NA; Uniprot ID:CAHD1_HUMAN; ENSEMBL ID: ENSG00000158966; HGNC ID: 29314
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 
blastocyst6 / 6231996
fetus16 / 56401228
neonate0 / 310970 
infant1 / 2362042
juvenile1 / 5555617
adult45 / 193912123
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma1 / 1747557
breast (mammary gland) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor19 / 26384572
glioma5 / 10688346
head and neck tumor7 / 13630251
kidney tumor2 / 6895929
leukemia0 / 958420 
liver tumor2 / 9635920
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia4 / 9725041
normal75 / 336030722
ovarian tumor0 / 766820 
pancreatic tumor9 / 10461686
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone1 / 7165513
bone marrow0 / 488010 
brain25 / 110098922
cervix0 / 481710 
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue13 / 21572260
esophagus0 / 202090 
eye5 / 21105423
heart1 / 8962611
intestine1 / 2344724
kidney5 / 21177723
larynx0 / 241450 
liver2 / 2077439
lung7 / 33697420
lymph0 / 442700 
lymph node1 / 9161010
mammary gland4 / 15327126
mouth7 / 67052104
muscle1 / 1077159
nerve0 / 157680 
ovary0 / 1020510 
pancreas9 / 21481241
parathyroid1 / 2053948
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta7 / 28082524
prostate2 / 18934510
salivary gland0 / 201550 
skin1 / 2105744
spleen1 / 5395218
stomach1 / 9661910
testis20 / 33044260
thymus2 / 8113124
thyroid1 / 4747321
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord0 / 136800 
uterus5 / 23287821
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_5345_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
Amygdala2.95 ± 0.9
Basal Forebrain2.38 ± 0.47
Basal Part of Pons2.06 ± 0.81
Cerebellar Cortex2.13 ± 0.74
Cerebellar Nuclei2.27 ± 0.65
Claustrum3.21 ± 0.82
Epithalamus2.75 ± 0.49
Frontal Lobe2.25 ± 0.76
Globus Pallidus3 ± 0.39
Hypothalamus2.47 ± 0.54
Insula2.11 ± 0.82
Limbic Lobe2.46 ± 0.82
Mesencephalon2.6 ± 0.75
Myelencephalon2.45 ± 0.74
Occipital Lobe2.3 ± 0.85
Parietal Lobe2.44 ± 0.93
Pontine Tegmentum2.42 ± 0.8
Striatum2.85 ± 0.84
Subthalamus2.27 ± 0.91
Temporal Lobe2.36 ± 0.86
Thalamus2.48 ± 0.7
White Matter2.71 ± 0.56
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Cachd1CBCerebellum6.79
9.46
Cachd1CTXCerebral cortex3.38
2.92
Cachd1HIPHippocampal region15.54
29.03
Cachd1HPFHippocampal formation12.01
18.05
Cachd1HYHypothalamus10.52
9.46
Cachd1LSXLateral septal complex13.38
9.87
Cachd1MBMidbrain28.83
27.94
Cachd1MYMedulla12.86
13.96
Cachd1OLFOlfactory bulb9.55
7.51
Cachd1PPons12.71
13.55
Cachd1PALPallidum8.22
7.7
Cachd1RHPRetrohippocampal region6.91
5.2
Cachd1sAMYStriatum-like amygdalar nuclei12.71
9.9
Cachd1STRStriatum4.31
3.18
Cachd1STRdStriatum dorsal region1.08
0.93
Cachd1STRvStriatum ventral region7.01
4.43
Cachd1THThalamus27.11
24.71
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