Evidence 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:	2q24
Quick Links	Entrez ID:8604; OMIM: 603667; Uniprot ID:CMC1_HUMAN; ENSEMBL ID: ENSG00000115840

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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>SLC25A12|8604|nucleotide
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Evidence Statistic Top

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Evidences	Syndromic Gene	GWAS	Expression	CNV	Linkage	Low Scale Association	Other Studies	Total
Score (No. of Studies)	No	0 (0)	2 (2)	0 (0)	2 (4)	3 (13)	2 (4)	27 (24)

Syndromic Autism Gene Top

Low Scale Association Studies (by Ethnic Group) Top

Family Based Association Studies: 12

Reference	Population	#SNPs/ #VNTRs	#Families	Affecteds						Result
Reference	Population	#SNPs/ #VNTRs	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
CAUCASIAN
Ramoz, 2004_1	AGRE	2 (detail)	411	- (-)			ASD	- -	- -
Segurado, 2005_1	Ireland	2 (detail)	167	174 (-)			ASD	- -	- -
Correia, 2006_1	Portugal	2 (detail)	241	- (-)			ASD	- -	- -
Rabionet, 2006_1	USA	9 (detail)	327	- (-)			AD	- -	- -
Blasi, 2006_1	IMGSAC	2 (detail)	261	- (-)			ASD	- -	- -
Silverman , 2008_1	USA	1 (detail)	170	355 (21.74%)			ASD	8±5 -	- -
Turunen, 2008_2	Finland	2 (detail)	29	- (-)			AS	- -	- -
Ramoz, 2008_1	USA, AGRE	1 (detail)	334	610 (21.64%)			AD	- -	- -
Turunen, 2008_1	Finland	2 (detail)	97	118 (-)			AD	- -	- -
Palmieri, 2008_1	Italy, AGRE	11 (detail)	326	346 (-)			ASD	- -	- -
Carayol, 2010_1	USA	1 (detail)	222	527 (22.22%)			autism	- -	- -
Kim, 2011_1	USA	3 (detail)	720	720 (13.89%)			ASD	6.9±2.8 -	- -

Case Control Based Association Studies: 1

Reference	Population	#SNPs/ #VNTRs	ASD Cases						Normal Controls		Result
Reference	Population	#SNPs/ #VNTRs	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)	Result
ASIAN
Chien, 2009_1	China	2 (detail)	465 (13.55%)			ASD	9.4±4.2 -	-	450 (49.56%)	45.9±13.4 years(male), 46.6±11.7 years(female) -

Genome-Wide Association Studies(By Ethnic Group) Top

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

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

Other Low Scale Gene Studies Top

Reference	Orangnism	Tissue	ADI-R	ADOS	Diagnosis	Evidence Level
Palmieri, 2008_1	human	superior temporal gyrus (BA 41/42 or 22)	-	-	AD	RNA expression
Subjects: 6 Normal Controls: 6 Methods: real-time PCR Evidence Details: Expression of AGC1, the predominant AGC isoform in brain, and cytochrome c oxidase activity were both increased in autistic patients, indicating an activation of mitochondrial metabolism.
Kim, 2011_1	human	blood			ASD	genotype-phenotype interaction
Subjects: 179 (150 male,29 female) in UIC-UF, 720(620 male, 100 female) in SSC Normal Controls: - Methods: Illumina 1M/1Mduo Genechip,TaqMan? SNP Genotyping Assay Evidence Details: In the UIC-UF sample(the sample set which contains unrelated autism patiens), three RBS-R score(ritualistic, sameness, sum)had positive associations with the A allele of rs2292813 and with the rs2056202-rs2292813 haplotype. The SSC sample(720 families) had positive association between the A allele of rs2056202 and four RBS-R score(stereotyped, sameness, restricted, sum) (p = 0.006-0.010), between the A allele of rs908670 and three RBS-R scores (stereotyped,self-injurious, sum) (p = 0.003-0.015), and between the rs2056202-rs2292813 haplotype and six RBS-R scores stereotyped, self-injurious, compulsive, sameness, restricted, sum)(omnibus test, p = 0.002-0.028). Taken together,the A alleles of rs2056202 and rs2292813 were consistently and positively associated with RRB traits in both UIC-UF and SSC samples, but the most significant SNP with phenotype association varied in each dataset.
Carayol, 2011_1	human	blood			ASD	genetic score model
Subjects: 844(664 males and 179 females) Normal Controls: - Methods: TaqMan allele discrimination assays Evidence Details: Our results demonstrate that individual susceptibility associated SNPs for autism may have important differential sex effects.
Jiao, 2011_1	human	blood			ASD	SNP-based diagnose model
Subjects: 180 Normal Controls: - Methods: PCR Evidence Details: We found no significant differences in genotypes and allele distributions with respect to this SNP between our ASD subjects and normal Asian populations in the HapMap

Large Scale Expression Studies Top

Microarray Studies: 2

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

CNV Studies Top

CNV Name	Chr	Band	Gain/Loss	Number of CNVs	Evidence Type	Reference
Case	Control
No matched CNVs !

Linkage Studies Top

Linkage Name	Band	Chr	Marker	LOD	NPL	P_Value	Reference
AutLD0000030	2q31.1	2	D2S2188	3.74	-	-	Monaco, 2001
AutLD0000071	2q31.1	2	D2S335	1.2	-	-	Buxbaum, 2001
AutLD0000076	2q31.1-31.3	2	D2S2314/D2S2310	2.54	-	-	Lamb, 2005
AutLD0000127	2q31.1	2	D2S2381	-	-	0.00525	Lauritsen, 2006

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

Studies: 616
Genes: 3,075
SNPs/VNTRs: 3,386
CNVs: 4,617
Linkage Regions: 158
Last Update: 05/25/2012
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