HsaINT0098615 @ hg19
Intron Retention
Gene
ENSG00000177943 | MAMDC4
Description
MAM domain containing 4 [Source:HGNC Symbol;Acc:24083]
Coordinates
chr9:139749883-139750300:+
Coord C1 exon
chr9:139749883-139750071
Coord A exon
chr9:139750072-139750183
Coord C2 exon
chr9:139750184-139750300
Length
112 bp
Sequences
Splice sites
5' ss Seq
GTGGTAAAG
5' ss Score
3.86
3' ss Seq
AGTGCCGGCTGCTGTTCCAGGCA
3' ss Score
5.92
Exon sequences
Seq C1 exon
AGGTGTCCACCCTGCAGCCGCTGCCTCCTGGGCCCCGGGCCCCAGCCCCCCAGCCCCTGCCGCCCAGCTCGCGGCTCCAGGATTCCTGCAAGCAGGGGCATCTTGCCTGCGGGGACCTGTGTGTGCCCCCGGAACAACTGTGTGACTTCGAGGAGCAGTGCGCAGGGGGCGAGGACGAGCAGGCCTGTG
Seq A exon
GTAAAGGGGCTCAACCTCCTGCAGACCTCCTGCTGCGGAGCCAAGGGGGTAGGCGCCGGGGCAGGCTGAGGACTCTGAGGACTCTGCCATTCAGTGCCGGCTGCTGTTCCAG
Seq C2 exon
GCACCACAGACTTTGAGTCCCCCGAGGCTGGGGGCTGGGAGGACGCCAGCGTGGGGCGGCTGCAGTGGCGGCGTGTCTCAGCCCAGGAGAGCCAGGGGTCCAGTGCAGCTGCTGCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000177943-MAMDC4:NM_206920:12
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.492 A=NA C2=0.473
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF0062918=MAM=PU(44.6=92.5)
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:
GCTCGCGGCTCCAGGATT
R:
CAGCTGCACTGGACCCCT
Band lengths:
234-346
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)