AutismKB 2.0

Evidence Details for PRAMEF12


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Basic Information Top
Gene Symbol:PRAMEF12 ( - )
Gene Full Name: PRAME family member 12
Band: 1p36.21
Quick LinksEntrez ID:390999; OMIM: NA; Uniprot ID:PRA12_HUMAN; ENSEMBL ID: ENSG00000116726; HGNC ID: 22125
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PRAMEF12|390999|nucleotide
ATGAGCCTCCAGGCCCCACCTAGACTCCTGGAGCTGGCTGAGCAGAGTCTGCTGAGAGACCGGGCCTTGGCCATCCCCACCCTGGAGGAGCTGCCCAGGGAGCTC
TTTCCCCCACTGTTCATGGAGGCCTTTACCAGGAGATGCTGCGAGACCCTGACAACTATGGTGCAGGCCTGGCCCTTCACCTGCCTTCCTCTAGGGTCCCTGATG
AAGTCATGTAATCTAGAGATCTTTCGAGCTGTGCTGGAGGGGCTTGATGCACTGCTTGCCCAGAAGGTTCGCCCCAGGCGGTGGAAACTTCAAGTGTTGGACTTG
CGGAATGTGGATGAGAACTTCTGGGGCATATGGTCTGGAGCTTCTGCACTCTCCCCAGAGGCCCTGAGTAAGAGACGAACAGCAGGGAACTGTCCAAGGCCGGGT
GGGCAGCAGCCCTTGATGGTGATCCTAGACCTTTGCTTCAAGAATGGGATGCTGGATGAATGCCTCACCCACTTCTTAGAGTGGGGCAAGCAGAGAAAAGGCTTA
CTGCACGTGTGTTGCAAGGAGCTGCAGATTTTTGGAATAGCCATCCACAGGATCATAGAGGTCCTGAACACGGTGGAGCTAGACTGTATCCAGGAGGTGGAAGTG
TGCTGCCCGTGGGAGCTGTCCATTCTTATAAGGTTCGCCCCTTACCTGGGCCAGATGAGGAATCTCCGCAAACTTGTTCTCTTCAACATCCATGTCTCTGCCTGC
ATTCCCCTAGACAGGAAGGAGCAGTTTGTCATCCAGTTCACCTCTCAGTTCCTCAAGCTGGACTACTTCCAGAAGCTTTACATGCACTCTGTCTCTTTCCTCGAA
GGCCACCTGGACCAGCTGCTCAGGTGTCTCCAGGCCCCCTTGGAGACAGTCGTAATGACCGAATGCCTGCTGTCAGAGTCGGACCTGAAGCATCTCTCTTGGTGC
CCGAGCATCCGTCAGCTAAAAGAGCTAGACCTGAGGGGCATCACACTGACCCATTTCAGTCCTGAGCCCCTCTCAGTTCTGCTGGAGCAAGCTGAGGCCACCCTG
CAGACCCTGGACTTAGAGGACTGTGGGATCGTGGATTCCCAACTCAGCGCCATCCTGCCTGCCCTGAGCCGCTGCTCCCAGCTCAGCACCTTCAGCTTCTGTGGG
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>PRAMEF12|390999|protein
MSLQAPPRLLELAEQSLLRDRALAIPTLEELPRELFPPLFMEAFTRRCCETLTTMVQAWPFTCLPLGSLMKSCNLEIFRAVLEGLDALLAQKVRPRRWKLQVLDL
RNVDENFWGIWSGASALSPEALSKRRTAGNCPRPGGQQPLMVILDLCFKNGMLDECLTHFLEWGKQRKGLLHVCCKELQIFGIAIHRIIEVLNTVELDCIQEVEV
CCPWELSILIRFAPYLGQMRNLRKLVLFNIHVSACIPLDRKEQFVIQFTSQFLKLDYFQKLYMHSVSFLEGHLDQLLRCLQAPLETVVMTECLLSESDLKHLSWC
PSIRQLKELDLRGITLTHFSPEPLSVLLEQAEATLQTLDLEDCGIVDSQLSAILPALSRCSQLSTFSFCGNLISMAALENLLRHTVGLSKLSLELYPAPLESYDA
QGALCWGRFSQLGAELMKTLRDLRQPKIIVFSTVPCPRCGIRASYDLEPSHCLLNACCQGGFI
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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)
MIXED/OTHERS
Anney R, 2012_1 - Illumina Infinium 1M-single SNP microarray; Illumina 1M-duo microarray 1301 -
(-)
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
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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:


  (e.g. CHD8)

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