HsaINT0098622 @ hg38
Intron Retention
Gene
ENSG00000177943 | MAMDC4
Description
MAM domain containing 4 [Source:HGNC Symbol;Acc:HGNC:24083]
Coordinates
chr9:136857659-136858097:+
Coord C1 exon
chr9:136857659-136857796
Coord A exon
chr9:136857797-136857978
Coord C2 exon
chr9:136857979-136858097
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:ENST00000485732:18
Average complexity
IR
Mappability confidence:
NA
Protein Impact
In the CDS, with uncertain impact
No structure available
Features
Disorder rate (Iupred):
C1=0.461 A=NA C2=0.077
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