Special

HsaINT0101848 @ hg38

Intron Retention

Gene
Description
multiple EGF like domains 6 [Source:HGNC Symbol;Acc:HGNC:3232]
Coordinates
chr1:3510783-3511687:-
Coord C1 exon
chr1:3511550-3511687
Coord A exon
chr1:3510903-3511549
Coord C2 exon
chr1:3510783-3510902
Length
647 bp
Sequences
Splice sites
5' ss Seq
TCGGTGCGC
5' ss Score
7.09
3' ss Seq
CCGTGGCGTGTGCTCCACAGATG
3' ss Score
9.23
Exon sequences
Seq C1 exon
GGATTGAGATGGAAATCGTGAACAGCTGTGAGGCCAACAACGGCGGCTGCTCCCATGGCTGCAGCCACACCAGTGCTGGGCCCCTGTGCACATGTCCCCGCGGCTACGAGCTGGACACAGATCAGAGGACCTGCATCG
Seq A exon
GTGCGCACTGGCTCCTCCCAGATGCCTGCACCCCACTCCAGGGACCCGCTGCTGCCCTGGGTCTGGGATCAGTTCCATGCCATGACTTGGAGGTCCTCGTCAGTCTCCCTGAGTCCTGGTCTGGCTGCCTGGGCCCTGGCGGGGTGGTAGGGCAGGTCTGACAGAGGCAGCATCCTGGCCGGGAAAGACCTTGGTGCCCACATCGGCCCGCCAGGCCCATACCCATGTTCACGGCACCCCCTTAGCCCCATCAGCACCTCCTCAGTACCACCCCTTCACCTGGGAAGGACCCAGTGTCCTGGAAGTCACACCCCAGACCCTGACTCCCAGATGGAGTCCCCACCCTCTAGCCCCAGTCCCAACACCTTGTCCACAGCAGACAGGCGGGTGGCCCTGGGGCTGTGACATGTGTCCTGTGTGTGCACATATGCGGGACCAGGAACGTGCATGTGCGTGGGCGTGATTGTGTGGTGGGTGCGATTGTCTGCAGGTGCCATGAATGTCGGTGTGCACACGTGAGGCTGTGGGCAGCTGCAGGTGCAGTCGGGCGCGTGGGTTGTGTGTGGTCGTATGCAGTTGTGTGTGGGTGGGGGCGTGTGCACGTGCAGGTGCCTGGTACCAGGGGGCCCGTGGCGTGTGCTCCACAG
Seq C2 exon
ATGTCGACGACTGTGCAGACAGCCCGTGCTGCCAGCAGGTGTGCACCAACAACCCTGGCGGGTACGAGTGCGGCTGCTACGCCGGCTACCGGCTCAGTGCCGATGGCTGCGGCTGTGAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000162591:ENST00000294599:6
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=0.000
Domain overlap (PFAM):

C1:
PF146701=FXa_inhibition=WD(100=76.6)
A:
NA
C2:
PF146701=FXa_inhibition=WD(100=85.4)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


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:
TTGAGATGGAAATCGTGAACAGCT
R:
CTCACAGCCGCAGCCATC
Band lengths:
254-901
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