HsaINT0020746 @ hg38
Intron Retention
Gene
ENSG00000156030 | ELMSAN1
Description
ELM2 and Myb/SANT domain containing 1 [Source:HGNC Symbol;Acc:HGNC:19853]
Coordinates
chr14:73736998-73740255:-
Coord C1 exon
chr14:73738560-73740255
Coord A exon
chr14:73737298-73738559
Coord C2 exon
chr14:73736998-73737297
Length
1262 bp
Sequences
Splice sites
5' ss Seq
AAGGTGAGA
5' ss Score
8.68
3' ss Seq
TCTGTTCCCATCTTGTCCAGGAT
3' ss Score
9.01
Exon sequences
Seq C1 exon
GTGCCAGAACCCTGTGGAGCATCATGAACTGGGAAGAGTAGCTGAGCCCCAGAGCCTCTCTGGAAGAGAAAGGAAGAGCCAGCAGTTCTTTCTCCCAGTGTCCGACCTCACTGTCCAGCGTCTTCCTCTGCCCCTGCTCTGCCCTCCCTGGCTCCTGGACTAGAGCCCGGCTTCCAGCAGGACGTTTCCCCAGGGGATGGGCGACTGTTGAAGGGGATCTCACCGCCAGGGCTCAGTTGGCCACATCATGAACCTCCAGGCCCAGCCCAAGGCTCAGAACAAGCGGAAGCGTTGCCTCTTCGGGGGCCAGGAACCAGCTCCCAAGGAGCAGCCCCCTCCCCTGCAGCCCCCCCAGCAGTCCATCAGAGTGAAGGAGGAGCAGTACCTCGGGCACGAGGGTCCAGGAGGGGCAGTCTCCACCTCTCAGCCTGTGGAACTGCCCCCTCCTAGCAGCCTGGCCCTGCTGAACTCTGTGGTATATGGGCCTGAGCGGACCTCAGCAGCCATGCTGTCCCAGCAGGTGGCCTCAGTAAAGTGGCCCAACTCTGTGATGGCTCCAGGGCGGGGCCCGGAGCGTGGAGGAGGTGGGGGTGTCAGTGACAGCAGCTGGCAGCAGCAGCCAGGCCAGCCTCCACCCCATTCAACATGGAACTGCCACAGTCTGTCCCTCTACAGTGCAACCAAGGGGAGCCCGCATCCTGGAGTGGGAGTCCCGACTTACTATAACCACCCTGAGGCACTGAAGCGGGAGAAAGCGGGGGGCCCACAGCTGGACCGCTATGTGCGACCAATGATGCCACAGAAGGTGCAGCTGGAGGTAGGGCGGCCCCAGGCACCCCTGAATTCTTTCCACGCAGCCAAGAAACCCCCAAACCAGTCACTGCCCCTGCAACCCTTCCAGCTGGCATTCGGCCACCAGGTGAACCGGCAGGTCTTCCGGCAGGGCCCACCGCCCCCAAACCCGGTGGCTGCCTTCCCTCCACAGAAGCAGCAGCAGCAGCAGCAACCACAGCAGCAGCAGCAGCAGCAGCAGGCAGCCCTACCCCAGATGCCGCTCTTTGAGAACTTCTATTCCATGCCGCAGCAACCCTCGCAGCAACCCCAGGACTTTGGCCTGCAGCCAGCTGGGCCACTGGGACAGTCCCACCTGGCTCACCACAGCATGGCACCCTACCCCTTCCCCCCCAACCCAGATATGAACCCAGAACTGCGCAAGGCCCTTCTGCAGGACTCAGCCCCGCAGCCAGCGCTACCTCAGGTCCAGATCCCCTTCCCCCGCCGCTCCCGCCGCCTCTCTAAGGAGGGTATCCTGCCTCCCAGCGCCCTGGATGGGGCTGGCACCCAGCCTGGGCAGGAGGCCACTGGCAACCTGTTCCTACATCACTGGCCCCTGCAGCAGCCGCCACCTGGCTCCCTGGGGCAGCCCCATCCTGAAGCTCTGGGATTCCCGCTGGAGCTGAGGGAGTCGCAGCTACTGCCTGATGGGGAGAGACTAGCACCCAATGGCCGGGAGCGAGAGGCTCCTGCCATGGGCAGCGAGGAGGGCATGAGGGCAGTGAGCACAGGGGACTGTGGGCAGGTGCTACGGGGCGGAGTGATCCAGAGCACGCGACGGAGGCGCCGGGCATCCCAGGAGGCCAATTTGCTGACCCTGGCCCAGAAGGCTGTGGAGCTGGCCTCACTGCAGAATGCAAAG
Seq A exon
GTGAGAGTGGCATGCAGTGGAGCCACACCTGGCAGAGGGCATCAGGCTGATAGGTGGGCGGCTGCAGGATTTGCTTCTTGCCTAGGGAAAGCCAGACTTTGCCCTAGCCAGCTGCCTGTGGGAAAACAGTACAAAGACCACCCTTCACCTTGCCACAGGGTTCTTGCTTACTTTCTTTTGCAGAAATATTTTTTGAATAATTAGATACTATTTCAGATACAGATAGATACAGATCACCGGGTTCAAGTGATTCTCCAGCCTCAGCCTCCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTTACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCGTGATCTGCCTGCCTCAGCCCCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGTGTCCAGCCAGAAGCACTTTCTATAGAAGAGAACAGTGTGAGGCTAGGCGCAGTGGCTTATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTGGGAGACCAGCCTGGCCAACACAGCAAAACCCTATCTCTACCAAAAAACACAAAAATTAGCCAGGTGTGGTACTGCACGCCTGTAATCCCAGCTACTGGGGAGGCTGAGGTGGGAGAATCATTAGAACCTGGGAGGCAGAGGTTGCAGTGAACCAAGATTGTGCCACTGCACTACAACCTGGGTGACAGAGTGAGACCCCCTGTCTCCAAAAAAAAAAAAAAAAAAAAAAAGTGGTCGGAGAAAAGGTAGTCAGGGAAAAAGGTCAAGTTGTGAGACCACTGGGAGCCACTGTGGGTGTTTGAGTCCCGTGACTAAATGGGAATGAGGGTCCTAGATCAAATCAGAATTTATCTTTTATTTGTTTATTTATTTATTATTGAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTTCGATCTCGGCTCACCGCAGCCTTAACTTCCTGGGCTCAGGCAATCCTCCCACCTCTGCCTCCCAAGTAGCTGGGACCACAGGAGTTTGCCACCATGCCCAGCTAATTTTGTTTTATTTTCTGTAGAGACGAGGTGTCACTATGTTGCCCAGGCTGGTCTTGAACTTGTGGCGTCAAGTGATCCTTTAATCTTGTCCTCCCAAAGTGCAGGAATTATAGGCGTGAGCCACTGCGCCTGGCTATGACTTACCTTTTAAATTGCACTTCTGTTCCCATCTTGTCCAG
Seq C2 exon
GATGGCAGTGGTTCTGAAGAGAAGCGGAAAAGTGTATTGGCCTCAACTACCAAGTGTGGGGTGGAGTTTTCTGAGCCTTCCTTAGCCACCAAGCGAGCACGAGAAGACAGTGGGATGGTACCCCTCATCATCCCAGTGTCTGTGCCTGTGCGAACTGTGGACCCAACTGAGGCAGCCCAGGCTGGAGGTCTTGATGAGGACGGGAAGGGTCCTGAACAGAACCCTGCTGAGCACAAGCCATCAGTCATCGTCACCCGCAGGCGGTCCACCCGAATCCCCGGGACAGATGCTCAAGCTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000156030:ENST00000394071:2
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion (1st CDS intron)
No structure available
Features
Disorder rate (Iupred):
C1=0.965 A=NA C2=0.958
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGGGAGAGACTAGCACCCAAT
R:
AGACACTGGGATGATGAGGGG
Band lengths:
354-1616
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