Special

HsaINT0069911 @ hg38

Intron Retention

Gene
Description
GEM interacting protein [Source:HGNC Symbol;Acc:HGNC:24852]
Coordinates
chr19:19633803-19634703:-
Coord C1 exon
chr19:19634507-19634703
Coord A exon
chr19:19634191-19634506
Coord C2 exon
chr19:19633803-19634190
Length
316 bp
Sequences
Splice sites
5' ss Seq
CAGGTGTGC
5' ss Score
6.46
3' ss Seq
TCTCTTCACACCATCCCCAGGGT
3' ss Score
8
Exon sequences
Seq C1 exon
CTCACCGAGCCCGTGATCCCCTTCCACCTCTACGACGCCTTCATCTCTCTGGCTAAGACCTTGCATGCAGACCCTGGGGACGACCCTGGGACCCCCAGCCCCAGCCCTGAGGTTATCCGCTCGCTGAAGACCCTCTTGGTACAGCTGCCTGACTCTAACTACAACACCCTGCGGCACCTGGTGGCCCATCTGTTCAG
Seq A exon
GTGTGCATGGGTCCCTGAGCCTTGAAACGCGACCCTTTTCCCTGGACATGCGACTACTAACTTCCCTGGCTGACCCCTGACACTGACCTCTGACCTTTGACCTGTGTTTTCTGAACTCTGAACCTTAATCCATGATTCATAACTTTGGGTACTGACCCCTGACCTCCAGTTCTGGATATGTGGCTGCTGGTCTCAGACGACTTACACCTGTGACATGGGCAAGTCACCTCTAGGCTGGCCTGCGTGTCCCACCCTTACCCTCAGACCAATGAGCTTGCATCCTGTACCCTGACCTTTCTCTTCACACCATCCCCAG
Seq C2 exon
GGTGGCTGCACGATTTATGGAAAACAAGATGTCTGCCAACAACCTGGGCATTGTGTTTGGGCCGACACTGCTGCGGCCGCCGGACGGCCCGCGGGCAGCCAGCGCCATCCCTGTCACCTGCCTGCTGGACTCTGGGCATCAGGCCCAGCTTGTGGAGTTCCTCATCGTGCACTACGAGCAGATCTTTGGGATGGATGAGCTCCCCCAGGCCACTGAGCCCCCGCCCCAAGACTCCAGCCCAGCCCCTGGGCCCCTCACAACCAGCTCCCAACCGCCACCCCCGCACCTTGACCCAGACTCCCAGCCCCCAGTCCTAGCCTCAGACCCCGGCCCAGACCCCCAGCACCACAGTACCCTGGAGCAGCATCCCACGGCCACACCTACCGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000089639:ENST00000203556:18
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.197 A=NA C2=0.623
Domain overlap (PFAM):

C1:
PF0062022=RhoGAP=FE(39.6=100)
A:
NA
C2:
PF0062022=RhoGAP=PD(20.1=25.4)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGCTAAGACCTTGCATGCAG
R:
CCATCCCAAAGATCTGCTCGT
Band lengths:
342-658
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