Special

HsaINT0101828 @ hg38

Intron Retention

Gene
Description
multiple EGF like domains 6 [Source:HGNC Symbol;Acc:HGNC:3232]
Coordinates
chr1:3498371-3499716:-
Coord C1 exon
chr1:3499588-3499716
Coord A exon
chr1:3498500-3499587
Coord C2 exon
chr1:3498371-3498499
Length
1088 bp
Sequences
Splice sites
5' ss Seq
AGAGTGCGT
5' ss Score
3.85
3' ss Seq
GCCTGCCTCTGCTCCTGTAGAGT
3' ss Score
8.51
Exon sequences
Seq C1 exon
CCTGCCCGGCCGGCTTCTTTGGATTGGACTGTCGCAGTGCCTGCAACTGCACCGCCGGAGCTGCCTGTGATGCCGTGAATGGCTCCTGCCTCTGCCCCGCTGGCCGCCGGGGCCCCCGCTGTGCCGAGA
Seq A exon
GTGCGTGAGGTCCCTGCTCAGCCCGGGGTGCTGCAGGAGGGGGTGCCAGGTCCTCCGTAGGAGACTCCCTCCTGCCACCTGTCCTGAGTGTCTGAAGCTACCAGGCAACCCCCCTGAGAGTGATGCTTTGCTCACTCGGGCCAGAGCGTTGGTCCTTTTTTGTGGCCACTCTGCTGAGTGGGTGGCCTGAGCCAGAGGGAGGGGAGAGTTGGCCATAGCAGCCGAGGGGACCCCGGCAGATCTGCCCAGCTGGCTGTGATCTGCTGCCAACCCCTGGGGTCCTGCCCACCCCTGGCTCTGACCAGCCCTCTCCACCTGCAGCCTGCCCAGCCCACACCTACGGGCACAATTGCAGCCAGGCCTGTGCCTGCTTTAACGGGGCCTCCTGTGACCCTGTCCACGGGCAGTGCCACTGTGCCCCTGGCTGGATGGGGCCCTCCTGCCTGCAGGGTAAGCCACATCTAGGAGTCCAGGGACCGGGGTCCAGGCCTGAGCGAGGGTGCTGGCCTCTTGCAGGGCCCACAGGACACTTGGTGCCTGGGGGAGGGAGGAAGGGGCTGTTAGGACTGAGGACCGTGCCTTTCACCTGTGCCCCTCTCCAGGCAGGGATGGGGAGTGAGGCTGGGCTGGCAGGTCATCCTAGGGGCAGCCCCCTGCAAGGTGCCTGACCCCAAAGTCCAACATGGGGCTGGAAAGCCAGACAGACCCTGTGGGGCCAGCTGGCTGGGGGATGCAGGTTGCTCCCTCTTCCCTGGCCCCAGCCTGCCCTGCCGGCCTGTACGGCGACAACTGTCGGCATTCCTGCCTCTGCCAGAACGGAGGGACCTGTGACCCTGTCTCAGGCCACTGTGCGTGCCCAGAGGGCTGGGCCGGCCTGGCCTGTGAGAAGGGTGAGCGCTGGGCGGCAGAGGAGGGACATACCCCAGCATGCTTGGTGCAGCCCCGCCTGCAGGCCTAGGAGGGCTCCCAGGTCAGGGGGCAGCGCCCTGGGGTGTAGGCTTCAGCTCTGCGTGCAGGAAGCATGGGTCAGGGTCTCCTGGGCCCAGGAGGCAGGACCCTCACCCTCGTGCCTGCCTCTGCTCCTGTAG
Seq C2 exon
AGTGCCTCCCCCGGGACGTCAGAGCTGGCTGCCGGCACAGCGGCGGTTGCCTCAACGGGGGCCTGTGTGACCCGCACACGGGCCGCTGCCTCTGCCCAGCCGGCTGGACTGGGGACAAGTGTCAGAGCC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000162591:ENST00000294599:20
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:
NO
A:
NA
C2:
PF079748=EGF_2=WD(100=70.5)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
CCGGCTTCTTTGGATTGGACT
R:
TCTGACACTTGTCCCCAGTCC
Band lengths:
246-1334
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