HsaINT0054580 @ hg38
Intron Retention
Gene
ENSG00000172889 | EGFL7
Description
EGF like domain multiple 7 [Source:HGNC Symbol;Acc:HGNC:20594]
Coordinates
chr9:136670169-136671014:+
Coord C1 exon
chr9:136670169-136670330
Coord A exon
chr9:136670331-136670949
Coord C2 exon
chr9:136670950-136671014
Length
619 bp
Sequences
Splice sites
5' ss Seq
CAGGTAAAC
5' ss Score
7.82
3' ss Seq
GCGCCTGGCTCTGCCCGCAGGAG
3' ss Score
9.68
Exon sequences
Seq C1 exon
ATGTGGATGAATGCAGTGCTAGGAGGGGCGGCTGTCCCCAGCGCTGCGTCAACACCGCCGGCAGTTACTGGTGCCAGTGTTGGGAGGGGCACAGCCTGTCTGCAGACGGTACACTCTGTGTGCCCAAGGGAGGGCCCCCCAGGGTGGCCCCCAACCCGACAG
Seq A exon
GTAAACAGCCCTGGCTGTGCCTGGCCTGGGGAGGCGGGCAGGCAGTGGACATTGCCGTGTGGCTGTTAGGCATGGTGGGGGGCACTGGAATCTGGGCGGAAGGCGGTGGGGACTCCCTCTCCAGGGAGGGAGGATGGGGAGGGAGGATAGGTGGGTTCCCGAGAACTGGGGGCAGGTTGCCCGGAGCCTCATATCAGCCAAGAAGGCAGAAGTGCCCCGTCCCGGGGTCCTGTCTGCATCCAGCGCAGCATTCTGGAAGACGCCACGCCTCCGCTGGCGACGGGACATTATTACTTTTGGTACGCGCTGTGACACTTCAAACTCGTACCGTGAGTAATAATGCGCCGTCCACGGCACCGCATCGAAAACGCCGCTGAGACCTCAGCCTTGACCTCCCTCAGCGTGGCCGGGACCCTGAGCCTCTGCGCAGAGCCACCCGCCCCGACGTACTTAGGCGGCATAGCCCTGAGACCTCTGGCCAGCGCCAGGCAGGCAGCGGGGGCGGCAGAGGCCTGGGCCTGAGTCTTCTGGCTCTGCCTCTCCCTGGGGACAGGAGGGAGCCTGGGGGTGTGGGTGGGGAGCCGGCCGGCCGTGACCCAGCGCCTGGCTCTGCCCGCAG
Seq C2 exon
GAGTGGACAGTGCAATGAAGGAAGAAGTGCAGAGGCTGCAGTCCAGGGTGGACCTGCTGGAGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000172889:ENST00000371699:7
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.200 A=NA C2=0.455
Domain overlap (PFAM):
C1:
PF0764510=EGF_CA=WD(100=72.7)
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GATGAATGCAGTGCTAGGAGGG
R:
CTCCTCCAGCAGGTCCACC
Band lengths:
222-841
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