Special

HsaINT0020751 @ hg38

Intron Retention

Gene
ENSG00000156030 | ELMSAN1
Description
ELM2 and Myb/SANT domain containing 1 [Source:HGNC Symbol;Acc:HGNC:19853]
Coordinates
chr14:73726033-73726707:-
Coord C1 exon
chr14:73726604-73726707
Coord A exon
chr14:73726109-73726603
Coord C2 exon
chr14:73726033-73726108
Length
495 bp
Sequences
Splice sites
5' ss Seq
CTGGTGAGA
5' ss Score
7.54
3' ss Seq
TTCCCTCACTTCCCCTCCAGGAA
3' ss Score
12.2
Exon sequences
Seq C1 exon
TGGAAGACCTGCTGACAGCCGCCTGCTCCAGCATTTTCCCTGGTGCTGGCACCAACCAGGAGCTGGCCCTGCACTGTCTGCACGAATCCAGAGGAGACATCCTG
Seq A exon
GTGAGAAGGCAACCCCAGCAGAGGGAGGGCCCCTCAGTGGGGGCTGGCTTGGATCCATGTCTGCTGCTCAGGACCTATGGCTGCTGGCATGCACATTTGAGGCCAGTAGGAGGGTCTGACTAAGGAAGGGGCTGTAGGGGCTTGACCCAAGGGAGCCCTAGTTTCAGACCCCGGGTTTTGCTGTGCAGTGTCCTCCTGTCCATTCCCATCCCTGATTCTGGGTCAGTGGACTCAGACTGGATGGTTGCTGAGAGCCTTCTCCAGCAGTGCTGCCTCCCTTGGGGCCATGGACTCTCTTAAGAGGACCTGAGGTCTGTTTTCTGGGCAGCCCCACCCCCTGTGATCTCACCACCCCAGTGGACCCCTTATCTCTCAGCAGTTAAGGGGGCAAGAGTAAGTGTCCACCCTACTCGGGATTTTATCAGGGCCTAGAATGCTCCGTCCACCACCGACACCCCTGTCAGTGCCCTGACCCTTCCCTCACTTCCCCTCCAG
Seq C2 exon
GAAACGCTGAATAAGCTGCTGCTGAAGAAGCCCCTGCGGCCCCACAACCATCCGCTGGCAACTTATCACTACACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000156030:ENST00000394071:7
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=NA C2=0.038
Domain overlap (PFAM):

C1:
PF0144819=ELM2=PD(19.0=31.4)
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
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