AutismKB 2.0

Annotation Detail for SLC25A12


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Basic Information Top
Gene Symbol:SLC25A12 ( AGC1,ARALAR )
Gene Full Name: solute carrier family 25 (mitochondrial carrier, Aralar), member 12
Band: 2q31.1
Quick LinksEntrez ID:8604; OMIM: 603667; Uniprot ID:CMC1_HUMAN; ENSEMBL ID: ENSG00000115840; HGNC ID: 10982
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 body2 / 7076128
blastocyst0 / 623190 
fetus37 / 56401265
neonate6 / 31097192
infant1 / 2362042
juvenile6 / 55556107
adult107 / 193912155
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma0 / 174750 
breast (mammary gland) tumor9 / 9417895
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor8 / 11936967
germ cell tumor17 / 26384564
glioma1 / 1068839
head and neck tumor13 / 13630295
kidney tumor10 / 68959145
leukemia1 / 9584210
liver tumor1 / 9635910
lung tumor1 / 1031279
lymphoma3 / 7175541
non-neoplasia4 / 9725041
normal265 / 336030778
ovarian tumor8 / 76682104
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer2 / 10268019
retinoblastoma4 / 4635686
skin tumor4 / 12494932
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland2 / 3319760
ascites0 / 400150 
bladder0 / 297570 
blood4 / 12347832
bone2 / 7165527
bone marrow1 / 4880120
brain143 / 1100989129
cervix3 / 4817162
connective tissue10 / 14925566
ear2 / 16212123
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye21 / 21105499
heart16 / 89626178
intestine12 / 23447251
kidney22 / 211777103
larynx2 / 2414582
liver1 / 2077434
lung9 / 33697426
lymph1 / 4427022
lymph node5 / 9161054
mammary gland12 / 15327178
mouth12 / 67052178
muscle10 / 10771592
nerve5 / 15768317
ovary8 / 10205178
pancreas11 / 21481251
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta7 / 28082524
prostate5 / 18934526
salivary gland0 / 201550 
skin9 / 21057442
spleen2 / 5395237
stomach4 / 9661941
testis16 / 33044248
thymus6 / 8113173
thyroid2 / 4747342
tonsil0 / 169990 
trachea7 / 52413133
umbilical cord3 / 13680219
uterus8 / 23287834
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203340_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts24.55
Adipocyte6.65
AdrenalCortex7.15
Adrenalgland5.85
Amygdala15.3
Appendix7.3
AtrioventricularNode5.2
BDCA4+_DentriticCells7.15
Bonemarrow6.8
BronchialEpithelialCells6.65
CD105+_Endothelial6.8
CD14+_Monocytes7.4
CD19+_BCells(neg._sel.)7.15
CD33+_Myeloid8.55
CD34+8.85
CD4+_Tcells7.6
CD56+_NKCells8.8
CD71+_EarlyErythroid6.2
CD8+_Tcells7
CardiacMyocytes10.7
Caudatenucleus6.6
Cerebellum5.65
CerebellumPeduncles9.7
CiliaryGanglion4.8
CingulateCortex10
Colorectaladenocarcinoma6.95
DorsalRootGanglion5.3
FetalThyroid7.45
Fetalbrain18.9
Fetalliver5.8
Fetallung5.15
GlobusPallidus5.7
Heart9.05
Hypothalamus14.55
Kidney5.65
Leukemia_chronicMyelogenousK-5626.15
Leukemia_promyelocytic-HL-607.95
Leukemialymphoblastic(MOLT-4)5.55
Liver9
Lung7.2
Lymphnode5.8
Lymphoma_burkitts(Daudi)11.1
Lymphoma_burkitts(Raji)10.85
MedullaOblongata8
OccipitalLobe9.95
OlfactoryBulb5.1
Ovary4.8
Pancreas5.4
PancreaticIslet7.4
ParietalLobe8.2
Pituitary8.25
Placenta6.45
Pons8.35
PrefrontalCortex12.95
Prostate8.05
Salivarygland5.65
SkeletalMuscle11.7
Skin5.15
SmoothMuscle7.6
Spinalcord7.35
SubthalamicNucleus6.6
SuperiorCervicalGanglion7.8
TemporalLobe6.8
Testis5.85
TestisGermCell6.5
TestisIntersitial5.7
TestisLeydigCell6.8
TestisSeminiferousTubule5.8
Thalamus8.45
Thymus5.35
Thyroid8.85
Tongue9.85
Tonsil6.75
Trachea5.75
TrigeminalGanglion6.9
Uterus5.5
UterusCorpus6.2
WholeBlood7.1
Wholebrain11.95
colon6.95
pineal_day12.76
pineal_night12.06
retina8.35
small_intestine6.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P405313
  • 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
Amygdala7.56 ± 0.31
Basal Forebrain7.41 ± 0.18
Basal Part of Pons7.61 ± 0.29
Cerebellar Cortex7.64 ± 0.33
Cerebellar Nuclei7.58 ± 0.41
Claustrum7.69 ± 0.41
Epithalamus6.85 ± 0.27
Frontal Lobe7.46 ± 0.33
Globus Pallidus7 ± 0.27
Hypothalamus7.3 ± 0.36
Insula7.46 ± 0.33
Limbic Lobe7.71 ± 0.4
Mesencephalon7.59 ± 0.44
Myelencephalon7.51 ± 0.37
Occipital Lobe8.08 ± 0.33
Parietal Lobe7.71 ± 0.33
Pontine Tegmentum7.57 ± 0.43
Striatum7.65 ± 0.34
Subthalamus7.69 ± 0.21
Temporal Lobe7.46 ± 0.31
Thalamus7.57 ± 0.37
White Matter6.24 ± 0.32
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Slc25a12CBCerebellum52.55
100
Slc25a12CTXCerebral cortex100
100
Slc25a12HIPHippocampal region100
100
Slc25a12HPFHippocampal formation100
100
Slc25a12HYHypothalamus100
100
Slc25a12LSXLateral septal complex100
100
Slc25a12MBMidbrain100
100
Slc25a12MYMedulla100
100
Slc25a12OLFOlfactory bulb100
100
Slc25a12PPons98
100
Slc25a12PALPallidum100
100
Slc25a12RHPRetrohippocampal region100
100
Slc25a12sAMYStriatum-like amygdalar nuclei100
100
Slc25a12STRStriatum100
100
Slc25a12STRdStriatum dorsal region100
100
Slc25a12STRvStriatum ventral region100
100
Slc25a12THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
CMC1_HUMAN_0 0 0 0 LQVAGEITTGPR PRIDE
CMC1_HUMAN_453 12 453 464 LQVAGEITTGPR PRIDE
PAp00000376 14 552 565 AGQTTYSGVIDCFR 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


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