Evidence Details 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 Links	Entrez ID:8604; OMIM: 603667; Uniprot ID:CMC1_HUMAN; ENSEMBL ID: ENSG00000115840; HGNC ID: 10982
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>SLC25A12|8604|nucleotide
ATGGCGGTCAAGGTGCAGACAACTAAGCGAGGGGATCCTCATGAGTTAAGAAACATATTTCTACAGTATGCCAGTACTGAGGTTGATGGAGAGCGTTATATGACC
CCAGAAGACTTTGTTCAGCGCTATCTTGGACTGTATAATGATCCAAATAGTAACCCAAAGATCGTGCAGCTCTTGGCAGGAGTAGCTGATCAAACCAAGGATGGG
TTGATCTCCTATCAAGAGTTTTTGGCATTTGAATCTGTTTTATGTGCTCCAGATTCCATGTTCATAGTGGCTTTCCAGTTGTTTGACAAGAGTGGAAATGGAGAG
GTGACATTTGAAAATGTCAAAGAAATTTTTGGACAGACTATTATTCATCATCATATCCCTTTTAACTGGGATTGTGAATTTATCCGACTGCATTTTGGGCATAAC
CGGAAGAAGCATCTTAACTACACAGAATTCACGCAGTTTCTCCAGGAGCTGCAATTGGAACATGCAAGACAAGCCTTTGCACTCAAAGACAAAAGCAAAAGTGGC
ATGATTTCTGGTCTGGATTTCAGTGACATCATGGTTACCATTAGATCTCACATGCTTACTCCTTTTGTGGAGGAGAACTTAGTTTCAGCAGCTGGAGGAAGTATC
TCACACCAGGTTAGCTTCTCCTACTTCAATGCATTTAACTCGTTACTGAATAACATGGAGCTTGTTCGTAAGATATATAGCACTCTAGCTGGCACAAGGAAAGAT
GTTGAAGTCACAAAGGAGGAATTTGCCCAGAGTGCCATACGCTATGGACAAGTCACACCACTAGAAATTGATATTCTATATCAGCTTGCAGACTTATATAATGCT
TCAGGGCGCTTGACTTTGGCAGATATTGAGAGAATAGCCCCATTGGCTGAGGGGGCCTTACCTTACAACCTGGCAGAACTTCAGAGACAGCAGTCTCCTGGGTTA
GGCAGGCCTATCTGGCTCCAGATTGCCGAGTCTGCTTACAGATTCACTCTGGGCTCAGTTGCTGGAGCTGTGGGAGCCACTGCAGTGTATCCTATAGATCTGGTG
AAGACCCGAATGCAAAACCAGCGTGGCTCTGGCTCTGTTGTTGGGGAGCTAATGTACAAAAACAGCTTTGACTGTTTTAAGAAAGTCTTGCGTTATGAGGGCTTC
TTTGGACTCTACAGGGGTCTGATACCACAACTTATAGGGGTTGCTCCAGAAAAGGCCATTAAACTGACTGTTAATGATTTTGTTCGGGACAAATTTACCAGAAGA
GATGGCTCTGTTCCACTTCCAGCAGAAGTTCTTGCTGGAGGCTGTGCTGGAGGCTCTCAGGTCATTTTTACCAACCCATTGGAGATAGTGAAGATTCGTCTGCAA
GTAGCTGGAGAGATCACCACGGGACCCAGAGTCAGCGCCCTGAATGTGCTCCGGGACTTGGGAATTTTTGGTCTGTATAAGGGTGCCAAAGCGTGTTTCCTCCGA
GACATTCCCTTCTCTGCAATCTATTTTCCTGTTTATGCTCATTGCAAACTACTTCTGGCTGATGAAAATGGACACGTGGGAGGTTTAAATCTTCTTGCAGCTGGA
GCCATGGCAGGTGTCCCAGCTGCATCTCTGGTGACCCCTGCTGATGTCATCAAGACAAGACTGCAGGTGGCTGCCCGCGCTGGCCAGACGACATACAGTGGTGTC
ATCGACTGTTTCAGGAAGATTCTCCGGGAAGAAGGGCCCTCAGCATTTTGGAAAGGGACTGCAGCTCGAGTGTTTCGATCCTCTCCCCAGTTTGGTGTTACCTTG
GTCACTTATGAACTTCTCCAGCGGTGGTTTTACATTGATTTTGGAGGCCTCAAACCCGCTGGTTCAGAACCAACACCTAAGTCACGCATTGCAGACCTTCCTCCT
GCCAACCCTGATCACATCGGTGGATACAGACTCGCCACAGCCACGTTTGCAGGCATCGAAAACAAATTTGGCCTTTATCTCCCGAAATTTAAGTCTCCTAGTGTT
GCTGTGGTTCAGCCAAAGGCAGCAGTGGCAGCCACTCAGTGA
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Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.

Evidences	Syndromic Gene	GWAS	CNV	Linkage	Association	Expression	NGS de novo	NGS Mosaic	NGS Other	Low-Scale Gene Studies	Total
Score (No. of Studies)	No	0 (0)	0 (0)	2 (4)	3 (14)	2 (2)	0 (0)	0 (0)	0 (0)	2 (2)	32 (22)

Syndromic Autism Gene Top

Genome-Wide Association Studies(By Ethnic Group) Top

Reference	Stage	Platform	#Families	Affecteds	Result
#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)
No Evidence.

Reference	Stage	Platform	ASD Cases	Normal Controls	Result
#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)
No Evidence.

CNV Studies Top

Reference	Source	Method	ADI-R	ADOS	Diagnosis	Family	Individual
Total	Simplex	Multiplex	Control	Affected	Control	Total
No matched CNVs !

Linkage Studies Top

Reference	Source	Method	ADI-R	ADOS	Diagnosis	Family				Individual
Reference	Source	Method	ADI-R	ADOS	Diagnosis	Total	Simplex	Multiplex	Control	Affected	Control	Total
Monaco, 2001	-	microsatellite-based genomic screen			PDD	152	-	152	-	-	-	-
Buxbaum, 2001	USA	microsatellite-based genomic screen			autism, PDD, Asperger syndrome	35	-	35	-	-	-	-
Lamb, 2005	-	microsatellite-based genomic screen			autism	207	-	207	-	420	-	-
Lauritsen, 2006	Faroe Islands	microsatellite-based genomic screen			autism	-	-	-	-	12	44	56

Low Scale Association Studies (by Ethnic Group) Top

Family Based Association Studies: 13

Reference	Source	Platform	#Families	Affecteds						Result
Reference	Source	Platform	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
CAUCASIAN
Ramoz, 2004_1	AGRE	biplex DNA Invader	411	- (-)			ASD	- -	- -
Segurado, 2005_1	Ireland	-	167	174 (-)			ASD	- -	- -
Rabionet, 2006_1	USA	TaqMan assays	327	- (-)			AD	- -	- -
Blasi, 2006_1	IMGSAC	multiplexed ligation detection reaction technique (LDR), GENEMAPPER software	261	- (-)			ASD	- -	- -
Correia, 2006_1	Portugal	PCR-RFLP	241	- (-)			ASD	- -	- -
Turunen, 2008_1	Finland	fluorogenic 5? nuclease allelic discrimination chemistry (taqman)	97	118 (-)			AD	- -	- -
Palmieri, 2008_1	Italy, AGRE	TaqMan and SNPlex	326	346 (-)			ASD	- -	- -
Silverman , 2008_1	USA	PCR	170	355 (21.74%)			ASD	8±5 -	- -
Turunen, 2008_2	Finland	-	29	- (-)			AS	- -	- -
Ramoz, 2008_1	USA, AGRE	-	334	610 (21.64%)			AD	- -	- -
Carayol, 2010_1	USA	direct genotyping	222	527 (22.22%)			autism	- -	- -
Kim, 2011_1	USA	Illumina? 1M/1Mduo Genechip	720	720 (13.89%)			ASD	6.9±2.8 -	- -
MIXED/OTHERS
Prandini P, 2012_1	Italian	TaqMan allelic discrimination assays	227	233 (13.73%)			ASD	- -	- -

Case Control Based Association Studies: 1

Reference	Source	Platfrom	ASD Cases					Normal Controls		Result
Reference	Source	Platfrom	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)	Result
ASIAN
Chien, 2009_1	China	-			ASD	9.4±4.2 -	-	450 (49.56%)	45.9±13.4 years(male), 46.6±11.7 years(female) -

Large Scale Expression Studies Top

Microarray Studies: 2

Reference	Source	Tissue	#Subjects (% Women)	Endo- pheno	Diagnosis	Normal Controls (% Women)	Fold Change	Up/ Down	P/Q value
Voineagu, 2011_1	Unknown	16 frontal cortex(BA9) and 13 temporal cortex(BA41	16 (25.00%)	-	autism	16 (6.25%)	0.64668	Down	-
Platform: Illumina Ref8 v3 microarrays ProbeSet: ILMN_1788053 RefSeq_ID/ EST: - GEO_ID: GSE28521 Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Voineagu, 2011_2	Unknown	frontal, BA44/45	10 (0.00%)	-	autism	6 (0.00%)	0.66027	Down	0.0136741
Platform: Illumina Ref8 v4 microarrays ProbeSet: ILMN_1788053 RefSeq_ID/ EST: - GEO_ID: GSE28521 Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.

Proteomics Studies:0

Reference	Source	Tissue	Platform	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Normal Controls(% Women)
No Evidence.

NGS de novo Mutation Studies Top

Reference	Case Number	Family Number	de novo Number	Title
No matched NGS de novo Mutation Studies!

NGS Mosaic SNV Studies Top

Reference	Case Number	Family Number	Mosaic Number	Title
No matched NGS Mosaic SNVs!

NGS Other Studies Top

Reference	Source	Platform	ADI-R	ADOS	Diagnosis	Family	Affected	Validation Method
Total	Simplex	Multiplex
No matched NGS Other Studies!

Low Scale Gene Studies Top

Reference	Organism	Tissue	ADI-R	ADOS	Diagnosis	Evidence Level	Result
No Evidence.

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Simple Query:

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

AutismKB 2.0

Evidence Details for SLC25A12

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics