Evidence Details for ABCD2

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Basic Information Top

Gene Symbol:	ABCD2 ( ABC39,ALDL1,ALDR,ALDRP,hALDR )
Gene Full Name:	ATP-binding cassette, sub-family D (ALD), member 2
Band:	12q12
Quick Links	Entrez ID:225; OMIM: 601081; Uniprot ID:ABCD2_HUMAN; ENSEMBL ID: ENSG00000173208; HGNC ID: 66
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>ABCD2|225|nucleotide
ATGACACATATGCTAAATGCAGCAGCTGATCGAGTGAAATGGACCAGATCGAGTGCTGCTAAGAGGGCTGCCTGCCTGGTGGCTGCGGCATATGCTCTGAAAACC
CTCTATCCCATCATTGGCAAGCGTTTAAAGCAATCTGGCCACGGGAAGAAAAAAGCAGCAGCTTACCCTGCTGCAGAGAACACAGAAATACTGCATTGCACCGAG
ACCATTTGTGAAAAACCTTCGCCTGGAGTGAATGCAGATTTCTTCAAACAGCTACTAGAACTTCGGAAAATTTTGTTTCCAAAACTTGTGACCACTGAAACAGGG
TGGCTCTGCCTGCACTCAGTGGCTCTAATCTCAAGAACCTTTCTTTCTATCTATGTGGCTGGTCTGGATGGAAAAATCGTGAAAAGCATTGTGGAAAAGAAGCCT
CGGACTTTCATCATCAAATTAATCAAGTGGCTTATGATTGCCATCCCTGCTACCTTCGTCAACAGTGCAATAAGGTACCTGGAATGCAAATTGGCTTTGGCCTTC
AGAACTCGCCTAGTAGACCACGCCTATGAAACCTATTTTACAAATCAGACTTATTATAAAGTGATCAATATGGATGGGAGGCTGGCAAACCCTGACCAATCTCTT
ACGGAGGATATTATGATGTTCTCCCAATCTGTGGCTCACTTGTATTCCAATCTGACCAAACCTATTTTAGATGTAATGCTGACCTCCTATACACTCATTCAAACT
GCTACATCCAGAGGAGCAAGCCCAATTGGGCCCACCCTACTAGCAGGACTTGTGGTGTATGCCACTGCTAAAGTGTTAAAAGCCTGTTCTCCCAAATTTGGCAAA
CTGGTGGCAGAGGAAGCACATAGAAAAGGCTATTTGCGGTATGTGCACTCGAGAATTATAGCCAATGTAGAAGAAATTGCCTTTTACAGAGGACATAAGGTAGAA
ATGAAACAACTTCAGAAAAGTTACAAAGCTTTAGCAGATCAGATGAACCTCATTTTATCCAAACGTTTGTGGTACATCATGATAGAACAGTTCCTGATGAAGTAT
GTTTGGAGCAGCAGTGGACTAATTATGGTGGCTATACCTATTATCACTGCAACTGGCTTTGCAGATGGTGAGGATGGCCAAAAGCAAGTTATGGTTAGTGAACGG
ACAGAAGCCTTTACCACTGCTCGAAATTTACTGGCCTCTGGAGCTGATGCTATTGAAAGGATTATGTCTTCATACAAAGAGGTCACTGAATTAGCAGGCTACACT
GCTCGAGTGTACAATATGTTTTGGGTCTTTGATGAAGTAAAAAGAGGCATTTATAAGAGAACTGCTGTCATTCAAGAATCTGAAAGCCATAGCAAGAATGGAGCT
AAGGTAGAATTACCTCTCAGTGACACATTGGCAATTAAAGGAAAAGTTATTGATGTGGATCACGGAATTATTTGTGAAAATGTTCCCATAATTACACCAGCAGGA
GAAGTGGTGGCTTCCAGGCTAAACTTCAAAGTAGAAGAAGGAATGCATCTTTTGATAACTGGTCCCAATGGTTGTGGGAAAAGTTCTCTCTTCAGAATTCTAAGT
GGGCTCTGGCCTGTGTATGAAGGAGTCCTCTATAAACCACCTCCTCAACATATGTTTTATATTCCACAAAGGCCATATATGTCTCTTGGAAGTCTTCGGGATCAA
GTCATTTACCCTGATTCAGTGGATGATATGCATGATAAAGGTTATACAGACCAAGATCTGGAACGTATCCTACACAATGTCCATCTCTATCACATAGTTCAAAGA
GAAGGAGGATGGGATGCTGTTATGGACTGGAAAGATGTCCTGTCAGGAGGGGAAAAGCAAAGAATGGGCATGGCTCGTATGTTTTATCATAAACCAAAATATGCC
TTGCTGGATGAATGTACCAGTGCTGTCAGCATTGATGTCGAAGGAAAGATATTTCAGGCTGCAAAAGGGGCTGGAATTTCCTTACTGTCTATAACACACAGACCT
TCTCTTTGGAAATACCACACACATTTATTACAGTTTGATGGTGAAGGAGGTTGGCGCTTTGAACAATTGGATACTGCTATCCGTTTGACATTGAGTGAAGAAAAA
CAAAAGCTAGAATCTCAGCTAGCTGGAATTCCCAAAATGCAGCAGAGACTCAATGAACTATGTAAAATTTTGGGAGAAGACTCAGTGCTGAAAACAATTAAAAAT
GAAGATGAGACATCTTAA
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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)	0 (0)	0 (0)	1 (1)	0 (0)	0 (0)	0 (1)	0 (0)	1 (2)

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

AutismKB 2.0

Evidence Details for ABCD2