AutismKB 2.0

Annotation Detail for EFCAB7


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Basic Information Top
Gene Symbol:EFCAB7 ( DKFZp666D225,KIAA1799,RP4-534K7.1 )
Gene Full Name: EF-hand calcium binding domain 7
Band: 1p31.3
Quick LinksEntrez ID:84455; OMIM: NA; Uniprot ID:EFCB7_HUMAN; ENSEMBL ID: ENSG00000203965; HGNC ID: 29379
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 
blastocyst1 / 6231916
fetus11 / 56401219
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult24 / 193912112
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 tumor4 / 11424635
esophageal tumor1 / 1729057
gastrointestinal tumor0 / 1193690 
germ cell tumor8 / 26384530
glioma2 / 10688318
head and neck tumor2 / 13630214
kidney tumor5 / 6895972
leukemia1 / 9584210
liver tumor2 / 9635920
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal54 / 336030716
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
skin tumor2 / 12494916
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 
blood0 / 1234780 
bone2 / 7165527
bone marrow4 / 4880181
brain25 / 110098922
cervix1 / 4817120
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus1 / 2020949
eye2 / 2110549
heart0 / 896260 
intestine4 / 23447217
kidney7 / 21177733
larynx0 / 241450 
liver5 / 20774324
lung6 / 33697417
lymph0 / 442700 
lymph node2 / 9161021
mammary gland2 / 15327113
mouth0 / 670520 
muscle2 / 10771518
nerve2 / 15768126
ovary0 / 1020510 
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta3 / 28082510
prostate0 / 1893450 
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach0 / 966190 
testis10 / 33044230
thymus0 / 811310 
thyroid1 / 4747321
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_24_P118608
  • 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
Amygdala7.99 ± 0.26
Basal Forebrain7.69 ± 0.06
Basal Part of Pons7.76 ± 0.27
Cerebellar Cortex7.91 ± 0.22
Cerebellar Nuclei7.57 ± 0.18
Claustrum7.93 ± 0.33
Epithalamus8.19 ± 0.36
Frontal Lobe7.74 ± 0.23
Globus Pallidus7.25 ± 0.28
Hypothalamus7.72 ± 0.39
Insula7.71 ± 0.24
Limbic Lobe7.82 ± 0.29
Mesencephalon7.77 ± 0.29
Myelencephalon7.77 ± 0.3
Occipital Lobe8.06 ± 0.27
Parietal Lobe7.8 ± 0.24
Pontine Tegmentum7.74 ± 0.31
Striatum7.63 ± 0.29
Subthalamus7.61 ± 0.25
Temporal Lobe7.8 ± 0.24
Thalamus7.65 ± 0.19
White Matter7.25 ± 0.24
Mouse Brain ISH
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