HsaINT0020744 @ hg38
Intron Retention
Gene
ENSG00000156030 | ELMSAN1
Description
ELM2 and Myb/SANT domain containing 1 [Source:HGNC Symbol;Acc:HGNC:19853]
Coordinates
chr14:73721297-73722847:-
Coord C1 exon
chr14:73722698-73722847
Coord A exon
chr14:73721510-73722697
Coord C2 exon
chr14:73721297-73721509
Length
1188 bp
Sequences
Splice sites
5' ss Seq
AAGGTGACT
5' ss Score
6.64
3' ss Seq
CTTGTTCTTGTTCCCCATAGACT
3' ss Score
10.56
Exon sequences
Seq C1 exon
ATCCAGACCAAGACCGTGGCCCAGTGCGTGGAGTTCTACTACACCTACAAGAAGCAGGTGAAAATCGGCCGCAATGGGACTCTAACCTTTGGGGATGTGGATACGAGCGATGAGAAGTCGGCCCAGGAAGAGGTTGAAGTGGATATTAAG
Seq A exon
GTGACTCCTTTTCCAACCTCAGCTGCATAGAGCCTGGGCTGGGTCTGGGACCAGGCCTGAGCTGGGAGCCCGAGCCCGAGCTCTCCAGGAGCCTGCAGAGGGCAGGTTGAGGAAGACAGTGTCCCTGACAGCCGCAAGGAGCCCTGGACCGCTGGGTTCTCCTCTCTATACTGCTGGTGTCATAGTAATAATACATTGTGTTGATACACAGGGTAATTTTCCCACAAGATTCACACCAGCATCATCTTCCTATCTCCGCTTAGCAGACCTCTAACACTGTTTCTCAAACCTCAGTCATTCTTGTATCACCTTTTTGATTTCTGCCATATCTGCATCCTACCATGTGTCGCCATTAGAATTTTTGTCATATTCATATACTACTTGTGCCATTACTTAATATTTTCCTTTAAGTCAACTCATTTTTTACTCAGAAGGGAAGTTTTATATCACAGTGATAAATAGAAAACCAAGGTTGTGTGCTATAAATAGAAGGTACTGGTAAAAATATATGTGAAAACCAGTATTACTGAATTCTAGCTAGATGCTGTGTTACCTGCCAAGGCTGAGACTGAGGGCTGACCTTGCTTTGTTAAAGAGATTATCAAGTCTAGAGAAGTATAAAAGACACATTAGCAGCAACCAGAGACTGAGTCCTTGGCATAATCAGGATTGAAAGAGAATTAAAAGGGAAGGTTACTTAATCCTATGTCCATGTATCCACCTAGCATCATTTTTGGGATTGCAAATCCACGCTTGGTGACATGCTACGGTAAGACAGGGAGTGGTTTGCTGCCCATTTTGCAGGCAGGAAGGTAGTAGAGCTACAGAAAGCATTACAAAGATAGTTTGGAATTGGAACTCAAGGCTTCTGCCTGGCTCACCACATCATTGCCGAGGATGCCTCCTGGTCATCTGTCCAGGAGGATGGGTGGCAATGGGGAGTGACTGGTATGTACCCTCCTTGCCCCTCGTTCTCTCTCAGGTGCTCCCAGGGCTTGAGACTCTTCTGTCCCCATGGCTACTATGCCATGGGGACAGAGTCCAGAGTCCTAGTACAGAAGACTATGCTGGGCCAGCCAGGCGAGCAGGACTAGCTGGGGCTGGTGAACCCCCCGGCCGGGTCAGAATCTGTGCTACAGCAGTGAGACAGAGCTCTAGGCTCACTGCCCTTGTTCTTGTTCCCCATAG
Seq C2 exon
ACTTCCCAAAAGTTCCCAAGGGTGCCTCTTCCCAGAAGAGAGTCCCCAAGTGAAGAGAGGCTGGAGCCCAAGAGGGAGGTGAAGGAGCCCAGGAAGGAGGGGGAGGAGGAGGTGCCAGAGATCCAAGAGAAGGAGGAGCAGGAAGAGGGGCGAGAGCGCAGCAGGCGGGCAGCGGCAGTCAAAGCCACGCAGACACTACAGGCCAATGAGTCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000156030:ENST00000394071:10
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.460 A=NA C2=1.000
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NO
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:
ATCCAGACCAAGACCGTGGC
R:
CTGTAGTGTCTGCGTGGCTTT
Band lengths:
351-1539
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development