HsaINT0098616 @ hg38
Intron Retention
Gene
ENSG00000177943 | MAMDC4
Description
MAM domain containing 4 [Source:HGNC Symbol;Acc:HGNC:24083]
Coordinates
chr9:136855732-136856149:+
Coord C1 exon
chr9:136855732-136855848
Coord A exon
chr9:136855849-136856017
Coord C2 exon
chr9:136856018-136856149
Length
169 bp
Sequences
Splice sites
5' ss Seq
CTGGTGAGG
5' ss Score
8.3
3' ss Seq
GCACCATGCTCTTCCCCTAGGGC
3' ss Score
10.36
Exon sequences
Seq C1 exon
GCACCACAGACTTTGAGTCCCCCGAGGCTGGGGGCTGGGAGGACGCCAGCGTGGGGCGGCTGCAGTGGCGGCGTGTCTCAGCCCAGGAGAGCCAGGGGTCCAGTGCAGCTGCTGCTG
Seq A exon
GTGAGGCCCAAGGCCCAAGGCTCAAGCCCCCGCCCGGGTGTGAGCAGCGTCCTCAGAGGGGTCTCTGCTCTGCCTCTGCACTACAGAGGGTCTCTGGACTGGGGATCCCTGAGGGACAGAGTGGGGCCCTGGAAGGGATGAGGCTCTGAGCACCATGCTCTTCCCCTAG
Seq C2 exon
GGCACTTCCTGTCTCTGCAGCGGGCCTGGGGGCAGCTAGGCGCTGAGGCCCGGGTCCTCACACCCCTCCTTGGCCCTTCTGGCCCCAGCTGTGAACTCCACCTGGCTTATTATTTACAGAGCCAGCCCCGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000177943:ENST00000485732:12
Average complexity
IR
Mappability confidence:
NA
Protein Impact
In the CDS, with uncertain impact
No structure available
Features
Disorder rate (Iupred):
C1=0.475 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0062918=MAM=PU(44.6=92.5)
A:
NA
C2:
PF0062918=MAM=FE(53.0=100)
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:
CTTTGAGTCCCCCGAGGCT
R:
TCGGGGCTGGCTCTGTAAATA
Band lengths:
238-407
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