HsaINT0098619 @ hg19
Intron Retention
Gene
ENSG00000177943 | MAMDC4
Description
MAM domain containing 4 [Source:HGNC Symbol;Acc:24083]
Coordinates
chr9:139751359-139751750:+
Coord C1 exon
chr9:139751359-139751493
Coord A exon
chr9:139751494-139751616
Coord C2 exon
chr9:139751617-139751750
Length
123 bp
Sequences
Splice sites
5' ss Seq
TTGGTGAGT
5' ss Score
9.27
3' ss Seq
GACTGGTCCCCTCCCTGCAGGGA
3' ss Score
10.5
Exon sequences
Seq C1 exon
GCCACTTTGTGCTCCTGGACCCCACAGACCCCCTGGCCTGGGGCCACAGTGCCCACCTGCTCTCCAGGCCCCAGGTGCCAGCAGCACCCACGGAGTGTCTCAGCTTCTGGTACCACCTCCATGGGCCCCAGATTG
Seq A exon
GTGAGTGGACCTGGAAACAGGGCAGAGCCTGTGGGGAGGCCCCCGGGGGTTCAGAGTCCCCCGCTCTGACACCCATCAAGGCACAGGAGAGAGGTCAGTTATGGACTGGTCCCCTCCCTGCAG
Seq C2 exon
GGACTCTGCGCCTAGCCATGAGACGGGAAGGGGAGGAGACACACCTGTGGTCGCGGTCAGGCACCCAGGGCAACCGCTGGCACGAGGCCTGGGCCACCCTTTCCCACCAGCCTGGCTCCCATGCCCAGTACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000177943-MAMDC4:NM_206920:16
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
Alternative protein isoforms
No structure available
Features
Disorder rate (Iupred):
C1=0.087 A=NA C2=0.354
Domain overlap (PFAM):
C1:
PF0062918=MAM=FE(29.2=100)
A:
NA
C2:
PF0062918=MAM=FE(28.6=100)
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:
CACTTTGTGCTCCTGGACCC
R:
AGGCTGGTGGGAAAGGGTG
Band lengths:
246-369
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)