HsaINT0098622 @ hg19
Intron Retention
Gene
ENSG00000177943 | MAMDC4
Description
MAM domain containing 4 [Source:HGNC Symbol;Acc:24083]
Coordinates
chr9:139752111-139752549:+
Coord C1 exon
chr9:139752111-139752248
Coord A exon
chr9:139752249-139752430
Coord C2 exon
chr9:139752431-139752549
Length
182 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGG
5' ss Score
10.07
3' ss Seq
TGGGCCGCCCCTGCTGGCAGGCA
3' ss Score
5.85
Exon sequences
Seq C1 exon
GGCACTACATGGTGGTGGACACAAGCCCAGACGCACTACCCCGGGGCCAGACGGCCTCCCTGACCTCCAAGGAGCACAGGCCCCTGGCCCAGCCTGCTTGTCTGACCTTCTGGTACCACGGGAGCCTCCGCAGCCCAG
Seq A exon
GTGAGGGGCTTTGGGAGGGGGCCCCAGTGGGCTCAGGGAAGCTTGGCCTGGTGTCCCCACCAGCCTTGTGCTGAGGCCACTGGGGAGCCTCTTGCGCCCGCCAGGCTGGGAGCCTGGGAGCTCAGACCAGGGCCTGCAGGTGCTCTCCCCACACTGCTGACCTGGGCCGCCCCTGCTGGCAG
Seq C2 exon
GCACCCTGCGGGTCTACCTGGAGGAGCGCGGGAGGCACCAGGTGCTCAGCCTCAGTGCCCACGGCGGGCTTGCCTGGCGCCTGGGCAGCATGGACGTGCAGGCCGAGCGAGCCTGGAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000177943-MAMDC4:NM_206920:19
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.452 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0062918=MAM=FE(29.3=100)
A:
NA
C2:
PF0062918=MAM=PD(31.5=67.2)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGCACTACATGGTGGTGGAC
R:
CTCGGCCTGCACGTCCAT
Band lengths:
245-427
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)