HsaINT0144773 @ hg38
Intron Retention
Gene
ENSG00000167100 | SAMD14
Description
sterile alpha motif domain containing 14 [Source:HGNC Symbol;Acc:HGNC:27312]
Coordinates
chr17:50113924-50114306:-
Coord C1 exon
chr17:50114187-50114306
Coord A exon
chr17:50114080-50114186
Coord C2 exon
chr17:50113924-50114079
Length
107 bp
Sequences
Splice sites
5' ss Seq
GAGGTGAGC
5' ss Score
8.7
3' ss Seq
TCTCCTTGGTCTCTGCCCAGTTC
3' ss Score
7.33
Exon sequences
Seq C1 exon
GAATCCACTCTGAGTGATGACTCCACGCCCCCCAGCAGCAGCCCCAAGATCCCCAGTGGGCCCTGGCAGGAGGCCAAATGTTCTTACCCCTACCACACGCTGTCTCAGTCTTCAGATGAG
Seq A exon
GTGAGCAAGGCTGGCCCAGGGTGCCCACGGAGTCCTGACCTCTGACTCTGCAAGGTGCTCAGGTCACAGGCCAAGCCTCCCCCTCACTCTCCTTGGTCTCTGCCCAG
Seq C2 exon
TTCCTGGATGAACCCCTCCCCCCTGTCCACCACTGGACCAGCCAGCAGGTGGGCCAGTGGCTGCAGAGCCTCAACCTGGAACAGTATGCTGCTGAGTTTGCTGCACGGCAGGTAGACGGGCCGCAGCTGCTGCAGCTGGACGGAAGCAAACTAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000167100:ENST00000330175:8
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.675 A=NA C2=0.583
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF0764712=SAM_2=PU(66.2=82.7)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAGCAGCAGCCCCAAGATC
R:
TTAGTTTGCTTCCGTCCAGCT
Band lengths:
242-349
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