AutismKB 2.0

Evidence Details for SLC35B1


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Basic Information Top
Gene Symbol:SLC35B1 ( UGTREL1 )
Gene Full Name: solute carrier family 35, member B1
Band: 17q21.33
Quick LinksEntrez ID:10237; OMIM: 610790; Uniprot ID:S35B1_HUMAN; ENSEMBL ID: ENSG00000121073; HGNC ID: 20798
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SLC35B1|10237|nucleotide
ATGGCCTCTAGCAGCTCCCTGGTGCCCGACCGGCTGCGCCTGCCGCTCTGCTTCCTGGGTGTCTTTGTCTGCTATTTTTACTATGGGATCCTGCAGGAAAAGATA
ACAAGAGGAAAGTATGGGGAAGGAGCCAAGCAGGAGACGTTCACCTTTGCCTTAACTTTGGTCTTCATTCAATGTGTGATCAATGCTGTGTTTGCCAAGATCTTG
ATCCAGTTTTTTGACACTGCCAGGGTGGATCGTACCCGGAGCTGGCTCTATGCTGCCTGTTCTATCTCCTATCTGGGTGCCATGGTCTCCAGCAATTCAGCACTA
CAGTTTGTCAACTACCCAACTCAGGTCCTTGGTAAATCCTGCAAGCCAATCCCAGTCATGCTCCTTGGGGTGACCCTCTTGAAGAAGAAGTACCCGTTGGCCAAG
TACCTGTGTGTGCTGTTAATTGTGGCTGGAGTGGCCCTTTTCATGTACAAACCCAAGAAAGTTGTTGGGATAGAAGAACACACAGTCGGCTATGGAGAGCTACTC
TTGCTATTATCGCTGACCCTGGATGGACTGACTGGTGTTTCCCAGGACCACATGCGGGCTCATTACCAAACAGGCTCCAACCACATGATGCTGAACATCAACCTT
TGGTCGACATTGCTGCTGGGAATGGGAATCCTGTTCACTGGGGAGCTCTGGGAGTTCTTGAGCTTTGCTGAAAGGTACCCTGCCATCATCTATAACATCCTGCTC
TTTGGGCTGACCAGTGCCCTGGGTCAGAGCTTCATCTTTATGACGGTTGTGTATTTTGGTCCCCTGACCTGCTCCATCATCACTACAACTCGAAAGTTCTTCACA
ATTTTGGCCTCTGTGATCCTCTTCGCCAATCCCATCAGCCCCATGCAGTGGGTGGGCACTGTGCTTGTGTTCCTGGGTCTTGGTCTTGATGCCAAGTTTGGGAAA
GGAGCTAAGAAGACATCCCACTAG

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>SLC35B1|10237|protein
MASSSSLVPDRLRLPLCFLGVFVCYFYYGILQEKITRGKYGEGAKQETFTFALTLVFIQCVINAVFAKILIQFFDTARVDRTRSWLYAACSISYLGAMVSSNSAL
QFVNYPTQVLGKSCKPIPVMLLGVTLLKKKYPLAKYLCVLLIVAGVALFMYKPKKVVGIEEHTVGYGELLLLLSLTLDGLTGVSQDHMRAHYQTGSNHMMLNINL
WSTLLLGMGILFTGELWEFLSFAERYPAIIYNILLFGLTSALGQSFIFMTVVYFGPLTCSIITTTRKFFTILASVILFANPISPMQWVGTVLVFLGLGLDAKFGK
GAKKTSH

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Evidence summary Top

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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 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 4 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)		 ADI-R ADOS Diagnosis Age
(range)		 IQ
(range)
CAUCASIAN
Cantor RM, 2017_1 - Illumina Human 1M-single Infinium BeadChip and Illumina Human 1M-Duo Infinium BeadChip arrays 2045 3104
(-)		ASD -
-		 -
-
Case Control Based Association Studies: 0
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
Linkage Studies Top