HsaINT0020749 @ hg38
Intron Retention
Gene
ENSG00000156030 | ELMSAN1
Description
ELM2 and Myb/SANT domain containing 1 [Source:HGNC Symbol;Acc:HGNC:19853]
Coordinates
chr14:73726830-73727524:-
Coord C1 exon
chr14:73727458-73727524
Coord A exon
chr14:73726973-73727457
Coord C2 exon
chr14:73726830-73726972
Length
485 bp
Sequences
Splice sites
5' ss Seq
GCCGTAAGT
5' ss Score
10.11
3' ss Seq
TGCCCTTTTCACTCCTCTAGACG
3' ss Score
10.15
Exon sequences
Seq C1 exon
ACAGTGCTGAAGTAACCCCGCCTGTCCTCTCTGTGATGGGGGAGGCCACCCCAGTGAGCATCGAGCC
Seq A exon
GTAAGTGCAGCCCTGCCCCTGGCCGAGGGGTGTGGGTGGCCACACTGGTGCAGTGTGTGCAGGTGGGCCCTGGGAGCAACAGGAGGGTTCCGTGGGGCCTGCAGAGGGCTGAGAGGGCCTCCTTGAGCTTCTGTATGTGGCCCTGGGCTTTGCTGTCCCCGCCCTGCCTCTGTGTGGAAGTTGCAGGGAAGGGCAAGGACCGGCTCAGCTTGAACTTATCTCTAGGAGAGTTGAAAGGGGGGTCCAGAGGCTCTTTCCCATCTGTAAACCTGCAGCTGCTTCTCCCCTCTCCAGCCTCTGGACCTTGCCTTTCTGGTGGTGCCAGGTCAGGCTGTCCTCCCAAGCCCCTAGAAGCCAGACTCCCTACACCTAGCTGAGGCCTTGCTCTGCCGGCTCCCCCTCATCTTCTTCCCACCCTGAGGGATCATCAAGTTCTCCGTCCCCGCAAGGTGAGGCCTCACTTCCTGCCCTTTTCACTCCTCTAG
Seq C2 exon
ACGGATCAACGTGGGCTCCCGGTTCCAGGCAGAAATCCCCTTGATGAGGGACCGTGCCCTGGCAGCTGCAGATCCCCACAAGGCTGACTTGGTGTGGCAGCCATGGGAGGACCTAGAGAGCAGCCGGGAGAAGCAGAGGCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000156030:ENST00000394071:5
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.217 A=NA C2=0.064
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF0144819=ELM2=PU(79.3=93.9)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAGTGCTGAAGTAACCCCGC
R:
CTTGCCTCTGCTTCTCCCG
Band lengths:
209-694
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development