Special

HsaINT0069908 @ hg38

Intron Retention

Gene
Description
GEM interacting protein [Source:HGNC Symbol;Acc:HGNC:24852]
Coordinates
chr19:19635025-19635569:-
Coord C1 exon
chr19:19635415-19635569
Coord A exon
chr19:19635214-19635414
Coord C2 exon
chr19:19635025-19635213
Length
201 bp
Sequences
Splice sites
5' ss Seq
GAGGTGTGG
5' ss Score
4.48
3' ss Seq
CCCTGTGACCTTCCCCACAGTGC
3' ss Score
10.56
Exon sequences
Seq C1 exon
ACCTGGGAGACGGGCTGGAGAATGGGCTGGGCAGCCCCTTCGGGAAGTGGACACTGTCCAGCGCGGCTCAGACCCACCAGCTGCGGCGACTGCGGGGCCCAGCCAAGTGCCGCGAGTGCGAAGCCTTCATGGTCAGCGGGACGGAGTGTGAGGAG
Seq A exon
GTGTGGCCTGGGTTAATGACCAAATGACCTTTGCTGACCCTTGATCATCTCCCTGACCTGAGATTCCTACAGCCTTTCTGCCCCTGGGACCCACCCTAACCTGATGTCTCCCATGAGCCCCCATTCCTTGAGGATCCTTGTAACCTTCTCTTCCCCTACTGGTCCCTAATGACCTCCCTGTCCCTGTGACCTTCCCCACAG
Seq C2 exon
TGCTTTCTGACCTGCCACAAGCGCTGCCTGGAGACTCTCCTGATCCTCTGTGGACACAGGCGGCTCCCAGCCCGGACACCCCTTTTTGGGGTTGACTTCCTGCAGCTACCCAGGGACTTCCCGGAGGAGGTACCCTTTGTGGTCACGAAGTGCACGGCTGAGATAGAACACCGTGCCCTGGATGTGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000089639:ENST00000203556:15
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.224 A=NA C2=0.000
Domain overlap (PFAM):

C1:
PF0013017=C1_1=PU(56.2=51.9)
A:
NA
C2:
PF0013017=C1_1=PD(39.6=30.2),PF0062022=RhoGAP=PU(11.0=28.6)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTTCGGGAAGTGGACACTGTC
R:
GCACGGTGTTCTATCTCAGCC
Band lengths:
294-495
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