AutismKB 2.0

Annotation Detail for SLC25A30


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SLC25A30 ( KMCP1 )
Gene Full Name: solute carrier family 25, member 30
Band: 13q14.13
Quick LinksEntrez ID:253512; OMIM: 610793; Uniprot ID:KMCP1_HUMAN; ENSEMBL ID: ENSG00000174032; HGNC ID: 27371
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 
fetus5 / 5640128
neonate2 / 3109764
infant0 / 236200 
juvenile0 / 555560 
adult39 / 193912120
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) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor1 / 1142468
esophageal tumor2 / 17290115
gastrointestinal tumor3 / 11936925
germ cell tumor4 / 26384515
glioma1 / 1068839
head and neck tumor4 / 13630229
kidney tumor0 / 689590 
leukemia2 / 9584220
liver tumor12 / 96359124
lung tumor1 / 1031279
lymphoma1 / 7175513
non-neoplasia0 / 972500 
normal43 / 336030712
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer2 / 10268019
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
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
bone1 / 7165513
bone marrow1 / 4880120
brain11 / 11009899
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus2 / 2020998
eye2 / 2110549
heart0 / 896260 
intestine2 / 2344728
kidney6 / 21177728
larynx1 / 2414541
liver14 / 20774367
lung5 / 33697414
lymph0 / 442700 
lymph node1 / 9161010
mammary gland2 / 15327113
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary0 / 1020510 
pancreas1 / 2148124
parathyroid2 / 2053997
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate4 / 18934521
salivary gland0 / 201550 
skin1 / 2105744
spleen0 / 539520 
stomach3 / 9661931
testis6 / 33044218
thymus4 / 8113149
thyroid3 / 4747363
tonsil0 / 169990 
trachea6 / 52413114
umbilical cord0 / 136800 
uterus6 / 23287825
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_10695_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
Amygdala3.39 ± 0.83
Basal Forebrain2.95 ± 0.35
Basal Part of Pons2.98 ± 0.39
Cerebellar Cortex3.13 ± 0.54
Cerebellar Nuclei3.12 ± 0.64
Claustrum3.09 ± 0.8
Epithalamus3.6 ± 0.46
Frontal Lobe3.08 ± 0.69
Globus Pallidus3.17 ± 0.67
Hypothalamus3.13 ± 0.63
Insula3.47 ± 1.02
Limbic Lobe3.2 ± 0.58
Mesencephalon3.32 ± 0.64
Myelencephalon3.19 ± 0.6
Occipital Lobe3.23 ± 0.52
Parietal Lobe3.08 ± 0.71
Pontine Tegmentum3.21 ± 0.78
Striatum3.71 ± 0.58
Subthalamus3.55 ± 0.49
Temporal Lobe3.19 ± 0.6
Thalamus2.95 ± 0.68
White Matter2.93 ± 1.11
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Slc25a30CBCerebellum5.76
9.45
Slc25a30CTXCerebral cortex6.53
6.31
Slc25a30HIPHippocampal region5.03
5.2
Slc25a30HPFHippocampal formation7.51
6.68
Slc25a30HYHypothalamus2.18
2.09
Slc25a30LSXLateral septal complex1.88
2.05
Slc25a30MBMidbrain5.41
6.42
Slc25a30MYMedulla9.68
9.66
Slc25a30OLFOlfactory bulb9.3
7.77
Slc25a30PPons4.73
5.82
Slc25a30PALPallidum4.05
3.53
Slc25a30RHPRetrohippocampal region10.21
7.83
Slc25a30sAMYStriatum-like amygdalar nuclei3.86
3.79
Slc25a30STRStriatum3.05
2.82
Slc25a30STRdStriatum dorsal region1.78
1.68
Slc25a30STRvStriatum ventral region7.92
6.52
Slc25a30THThalamus3.38
2.86
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