Special

HsaINT0101847 @ hg38

Intron Retention

Gene
Description
multiple EGF like domains 6 [Source:HGNC Symbol;Acc:HGNC:3232]
Coordinates
chr1:3511550-3512128:-
Coord C1 exon
chr1:3512006-3512128
Coord A exon
chr1:3511688-3512005
Coord C2 exon
chr1:3511550-3511687
Length
318 bp
Sequences
Splice sites
5' ss Seq
ACCGTGAGT
5' ss Score
9.4
3' ss Seq
GGTGGCTGGTCTCACGGCAGGGA
3' ss Score
4.95
Exon sequences
Seq C1 exon
ATGTGGACGAATGTGCCGCAGGGCTGGCCCAGTGTGCCCATGGCTGCCTCAACACCCAGGGGTCCTTCAAGTGCGTGTGTCACGCGGGCTATGAGCTGGGCGCCGATGGCCGGCAGTGCTACC
Seq A exon
GTGAGTGGGCAGCCGGCAACAGGCTGAAGGTGCCCGGGATGGCCATGCTGCTCCCCAGGACCCCGAGGCCTGCTTTGGCTGAAGGGCAGGGCTTCCTTGTCAATCAGGGGCAGCCCTGGGTGTGAGCCCTTGGTGAGCAGAGGGTCGAGGGAGAGCAGGGGGTCCCAGACCCAACAAGGCCTGGGAGCTCCATGTTGCTGCTTCCCACGGGTGTCCCCAGGCCCGAGGCTGGCTGCTGGGTGGAGGTAGGGGTAACTAAGGTAGGTGGGGGTCATCCTAGCCGCCATCCCATACCCTGGGTGGCTGGTCTCACGGCAG
Seq C2 exon
GGATTGAGATGGAAATCGTGAACAGCTGTGAGGCCAACAACGGCGGCTGCTCCCATGGCTGCAGCCACACCAGTGCTGGGCCCCTGTGCACATGTCCCCGCGGCTACGAGCTGGACACAGATCAGAGGACCTGCATCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000162591:ENST00000294599:5
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:
PF0764510=EGF_CA=WD(100=95.2)
A:
NA
C2:
PF146701=FXa_inhibition=WD(100=76.6)


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:
ATGTGGACGAATGTGCCGC
R:
AGGTCCTCTGATCTGTGTCCA
Band lengths:
255-573
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