Special

HsaINT0020748 @ hg38

Intron Retention

Gene
ENSG00000156030 | ELMSAN1
Description
ELM2 and Myb/SANT domain containing 1 [Source:HGNC Symbol;Acc:HGNC:19853]
Coordinates
chr14:73727458-73729985:-
Coord C1 exon
chr14:73729640-73729985
Coord A exon
chr14:73727525-73729639
Coord C2 exon
chr14:73727458-73727524
Length
2115 bp
Sequences
Splice sites
5' ss Seq
CTAGTGAGT
5' ss Score
7.43
3' ss Seq
ACCTGCTCTTTGTCCCATAGACA
3' ss Score
10.62
Exon sequences
Seq C1 exon
GCAGAGGACATGAATGTCAAGTTGGAGGGGGAGCCTTCCGTGCGGAAACCAAAGCAGCGGCCCAGGCCCGAGCCCCTCATCATCCCCACCAAGGCGGGCACTTTCATCGCCCCTCCCGTCTACTCCAACATCACCCCATACCAGAGCCACCTGCGCTCTCCCGTGCGCCTAGCTGACCACCCCTCTGAGCGGAGCTTTGAGCTACCTCCCTACACGCCGCCCCCCATCCTCAGCCCTGTGCGGGAAGGCTCTGGCCTCTACTTCAATGCCATCATATCAACCAGCACCATCCCTGCCCCTCCTCCCATCACGCCTAAGAGTGCCCATCGCACGCTGCTCCGGACTA
Seq A exon
GTGAGTGACCTCCCTCCGCGACCCTGGCAGGAGCGGGGCTGGGGCACTGGGCAGGGAGGCATCTCAGCCTGTGGGGCTGCTGGGGATTGGGCTGGAACACTCTGGGAGAAGGAGCTCTGCTCTGTCTTCTCTGAGATTGAGAAGGAGGTTGTCCTGGTTCAACAAGGAGGGGTGGGGGGCCCGCCCAGCTGCTTGGATTCAAATCTCAATTCTACCATTTACTATTACATCCACTTTTGCAAGTCACTTCAACTCCCTGGGCCTCAGTTTTTTCAGTATTAAGATGGGGATATTAGTATTACTTGGTTGATGATGAAACTGCCAATATTCAACTATTTTTGGATTCACAAATAGTAGTTTCCTTTGGTTCAACCTAATAGCCACTTCCTAGGCTCAGGTGCATTAGCACACATAAAGCTGGAACATCATGCCCAGGCCATCCTGTTTGCTCATAGTCCTTTGTGGCAGATCTAGTCTCTGGGGCTCTCGAACAGTCTTTTTGGCCAAAAGCAGACATTCTGGAAATATTGGGCTGGCTTGGGGTGATGTACTGCTGAAAAATGTTGCCCACTCCATAAAGAGATCCATTTCCTCTGCAAAATGGGATAATCCAATCCCTTAGGGTGGTAGAGAGGATTAAGTGGAAGTAGCTAGCTTATAGATGCCTTTGGCCAATTAACCTTTGACTGTGACCTCACCCATGGTGTAGCTCTCTGGTGCCCCCTGGTGTCTGTGGATGCAAAATGTTTGCCCTAGGCTGGCCAGCCTTCTGTACTGCTTCCTGGGGAGGCTTCTCCCTGGCTAGGCTGTGTAGGAAGAGGAAGTCATTGTAGAGATCAGACTGGCAGCCAGCGAGAGGTCAGTCTGTCCACGAGTATCTACCGAACACTCGGGCGTAAGGCCTTGTACTGGGTCCTGTGAGGGCTCCAAGAATGTACAGGACACCATGGTCTGTTCTATAGAGAATGCAAGGTCATTAGGGAGTTGACATGAAAGCCTTGGAGTTGAAAAAACAGAGGTTCCCGGTAGTGTGGGATCTGCAGCCAGTGAGCAAAGCCCCAGCAGCTAGCCTGGGATGGTGAGGACTGTATTCAAGAGGGGTGGGGCCAGAGCTGAGCCGCAGCGATGGAGGAGGGCGGGGGGCAGGGAGGACACACCAGGCGGAGGAAATGACTGGTGCAAAGGCCTGTAGATGGGACCGTGCAGGGAGAGTGAGGGGTTGGGAGGTAAGCAGTCAGCTAGGATGCAGGTCCAGGCACATGGGTGGTGGGAGGTACAAATGGAAGCGGAACCGCCTTGAACCCTGAGGGGAGGGTTGCAGGTTTTATCTCACATTGCAGGAGGGAGTCAGTAAAGAGCAAAGATTTTTTTTTTTTTTTTTTTTTAAGCAAAGGAGTGTTTTGATCATGTGGGGCCTTAAGAAGACCAACTTGGGCCTGGGCACGGTGACTCACACCTGTAATTCCAGCTACTTGGGAGGCTGAGGGAGGAGAATTGCTTGAACTTGGAGGTTCAACTCCTTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGGAGACAGAGTGAGACTTTGTCTCAAAAAGCAACAACAACAACAACAAAAACAAAAAAAAAACTAGCTTGGGAGAAACTGAGGCAGAAAATCCAAAGAGGAAGTGAGACGATAACTATAAAACAGCGATCCCCTTCACCACCTCCCTAGTGTGCTCAAAGTTTCAGTCTCTTTACTAGAAAACCACAGCTTTATGTTGGAGTTAGTGTTGGAGCTTCTGGGGGCAAGGATATGGCTTTGGTAGTAGAAGCAGTAATAATAATCTTTATCGAGTGCCAGGCTCTGTGCATTATTTTATCCAGTTCTCACATTAACCGTAGGAGACAGGTAGTGATAGCCCCTTTTGGTGAGTGTGAAAACTGAGGCACCCAAATATTTAGTGAAGGGCCTGCGTTTTCGTAGGTGACAGGCTGCAGAGCCAGGACTCAGGTGCCTGTGTTCCCTGCGTGAGCTCTGTGTGTCACCACTGTGACTCTTGCACATACAGGGCAGCCACTAGGATTGGGGGTGCTTTGCTGAAAGGGGGGTGCTATTTATCAACCTGCTCTTTGTCCCATAG
Seq C2 exon
ACAGTGCTGAAGTAACCCCGCCTGTCCTCTCTGTGATGGGGGAGGCCACCCCAGTGAGCATCGAGCC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000156030:ENST00000394071:4
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.691 A=NA C2=0.217
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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