Evidence Details for SLC6A4

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Basic Information Top

Gene Symbol:	SLC6A4 ( 5-HTT,5-HTTLPR,5HTT,HTT,OCD1,SERT,hSERT )
Gene Full Name:	solute carrier family 6 (neurotransmitter transporter, serotonin), member 4
Band:	17q11.2
Quick Links	Entrez ID:6532; OMIM: 182138; Uniprot ID:SC6A4_HUMAN; ENSEMBL ID: ENSG00000108576; HGNC ID: 11050
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>SLC6A4|6532|nucleotide
ATGGAGACGACGCCCTTGAATTCTCAGAAGCAGCTATCAGCGTGTGAAGATGGAGAAGATTGTCAGGAAAACGGAGTTCTACAGAAGGTTGTTCCCACCCCAGGG
GACAAAGTGGAGTCCGGGCAAATATCCAATGGGTACTCAGCAGTTCCAAGTCCTGGTGCGGGAGATGACACACGGCACTCTATCCCAGCGACCACCACCACCCTA
GTGGCTGAGCTTCATCAAGGGGAACGGGAGACCTGGGGCAAGAAGGTGGATTTCCTTCTCTCAGTGATTGGCTATGCTGTGGACCTGGGCAATGTCTGGCGCTTC
CCCTACATATGTTACCAGAATGGAGGGGGGGCATTCCTCCTCCCCTACACCATCATGGCCATTTTTGGGGGAATCCCGCTCTTTTACATGGAGCTCGCACTGGGA
CAGTACCACCGAAATGGATGCATTTCAATATGGAGGAAAATCTGCCCGATTTTCAAAGGGATTGGTTATGCCATCTGCATCATTGCCTTTTACATTGCTTCCTAC
TACAACACCATCATGGCCTGGGCGCTATACTACCTCATCTCCTCCTTCACGGACCAGCTGCCCTGGACCAGCTGCAAGAACTCCTGGAACACTGGCAACTGCACC
AATTACTTCTCCGAGGACAACATCACCTGGACCCTCCATTCCACGTCCCCTGCTGAAGAATTTTACACGCGCCACGTCCTGCAGATCCACCGGTCTAAGGGGCTC
CAGGACCTGGGGGGCATCAGCTGGCAGCTGGCCCTCTGCATCATGCTGATCTTCACTGTTATCTACTTCAGCATCTGGAAAGGCGTCAAGACCTCTGGCAAGGTG
GTGTGGGTGACAGCCACCTTCCCTTATATCATCCTTTCTGTCCTGCTGGTGAGGGGTGCCACCCTCCCTGGAGCCTGGAGGGGTGTTCTCTTCTACTTGAAACCC
AATTGGCAGAAACTCCTGGAGACAGGGGTGTGGATAGATGCAGCCGCTCAGATCTTCTTCTCTCTTGGTCCGGGCTTTGGGGTCCTGCTGGCTTTTGCTAGCTAC
AACAAGTTCAACAACAACTGCTACCAAGATGCCCTGGTGACCAGCGTGGTGAACTGCATGACGAGCTTCGTTTCGGGATTTGTCATCTTCACAGTGCTCGGTTAC
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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 (6)	3 (29)	0 (0)	0 (2)	0 (0)	0 (0)	3 (13)	40 (50)

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
Reference	Source	Method	ADI-R	ADOS	Diagnosis	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
McCauley, 2005	-	microsatellite-based genomic screen			autism	158	-	158	-	333	-	-
Yonan, 2003	USA	microsatellite-based genomic screen			PDD	345	-	345	-	-	-	-
Monaco, 2001	-	microsatellite-based genomic screen			PDD	152	-	152	-	-	-	-
Ylisaukko-oja, 2006	USA, Finland	microsatellite-based genomic screen			ASD	314	-	314	-	-	-	-
Spence, 2006	USA	microsatellite-based genomic screen			ASD	133	-	133	-	280	-	-
Sutcliffe, 2005	USA, AGRE	microsatellite-based genomic screen			ASD	341	-	341	-	-	-	-

Low Scale Association Studies (by Ethnic Group) Top

Family Based Association Studies: 26

Reference	Source	Platform	#Families	Affecteds						Result
Reference	Source	Platform	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
CAUCASIAN
Klauck, 1997_1	Germany, Austria	PCR	98	109 (25.00%)			ASD	15.5±8.6 (3.5-37.3)	68±25 (27-129)
Maestrini, 1999_1	UK(mixed)	PCR	99	192 (-)			ASD	- -	- -
Persico, 2000_1	Italy, USA	PCR	91	98 (8.16%)			AD	- (3-15)	- -
Tordjman, 2001_1	France	PCR	69	71 (35.21%)			ASD	11.6±4.5 (4.6-19.5)	45.6±4.1 (45-80)
Betancur, 2002_1	PARIS	PCR	96	150 (27.33%)			AD	14.5 (4-44)	- -
Persico, 2002_1	Italy	-	156	- (-)			AD	- -	- -
Kim, 2002_1	USA	ABI PRISM 3700 Genetic Analyzer	115	115 (14.78%)			AD	7.1±5.2 -	77.9±24.5 -
McCauley, 2004_1	NEMC, AGRE	FP-TDI(Acycloprime,VICTOR2) or TaqMan(ABI 7900HT Sequence Detection System)	137	- (-)			AD	- -	- -
Coutinho, 2004_1	Portugal	Not mentioned	105	- (-)			ASD	- (2-14)	- -
Conroy, 2004_1	Ireland	SNaPshot Method of single base extension, ABI Genetic Analyser, Genotyper (version 2.5.1)	84	- (-)			ASD	- -	<35 -
Mulder, 2005_1	Holland	-	-	125 (-)			PDD	- (5-20)	- -
Sutcliffe, 2005_1	AGRE, USA	Taqman allelic discrimination assays	384	- (-)			ASD	- -	- -
Devlin, 2005_1	CPEA	-	390	- (-)			ASD	- -	- -
Ramoz, 2006_1	USA, AGRE	Illumina BeadArray technology	352	645 (-)			AD	- -	- -
Guerini, 2006_1	Italy	SSP-PCR, GeneAmp PCR 9700 thermocycler	37	40 (30.00%)			ASD	9±5 -	- -
Coutinho, 2007_1	Portugal	the Amplifluor System or PCR-RFLP	186	186 (17.24%)			AD	6.8 (2-18)	- -
Longo, 2009_1	Brazil	PCR	105	151 (-)			ASD	- -	- -
Ma, 2009_1	Unknown	custom Taqman SNP genotyping assays, Applied Biosystems (ABI) Taqman? SNP genotyping assays, Taqman allelic discrimination method	290	- (-)			autism	- -	- -
Anderson, 2009_1	USA, AGRE	ABI 7900 Taqman system	403	- (-)			ASD	- (3-21)	- -
ASIAN
Yirmiya, 2001_1	Israel	PCR	34	- (%)			AD	- -	- -
Wu, 2005_1	China	PCR-RFLP	175	175 (8.00%)			ASD	6.08±2.97 -	61.52±19.77 -
Koishi, 2006_1	Japan	-	104	104 (11.54%)			ASD	17.4±10.5 -	- -
Guhathakurta, 2006_1	India	ABI PRISM 3130 Genetic Analyzer	79	79 (16.67%)			ASD	6.09±3.07 -	- -
Cho, 2007_1	Korea	PCR-RFLP	126	126 (13.49%)			ASD	6.0±2.6 (2.2-15.4)	65.0±27.7 (25-126)
Guhathakurta, 2008_1	India, Bangladesh, Nepal	PCR-RFLP, ABI prism 3130 Genetic Analyzer using Big dye ? v3.1 terminator chemistry of Applied Biosystems	93	93 (16.67%)			ASD	5.84±2.96 -	- -
MIXED/OTHERS
Cook, 1997_1	USA	PCR	86	86 (6.98%)			AD	8.5±7.6 (2.5-36)	>35 -

Case Control Based Association Studies: 3

Reference	Source	Platfrom	ASD Cases					Normal Controls		Result
Reference	Source	Platfrom	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)	Result
MIXED/OTHERS
Zhong, 1999_1	USA	-			ASD	- -	-	92 (-)	- -
Longo, 2009_1	Brazil	-			ASD	10.5±5.2 -	-	179 (43.02%)	- -
Tassone, 2011_1	USA	-			ASD	3.8±0.9 -	-	137 (0.00%)	3.4±0.8 -
Ro M, 2013_1	Korean	Illumina GoldenGate assay			ASD	15.44 -	-	305? (51.80%)	36.57 -	-

Large Scale Expression Studies Top

Reference	Source	Tissue	#Subjects (% Women)	ADI-R	ADOS	Endo- pheno	Diagnosis	Normal Controls (% Women)	Fold Change	Up/ Down	P/Q value
No Evidence.

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
Neale BM, 2012	175	175	173	Patterns and rates of exonic de novo mutations in autism spectrum disorders.
De Rubeis S, 2014	2270	-	1702	Synaptic, transcriptional and chromatin genes disrupted in autism

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
Reference	Source	Platform	ADI-R	ADOS	Diagnosis	Total	Simplex	Multiplex	Affected	Validation Method
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 SLC6A4

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics