Special

HsaINT0098633 @ hg38

Intron Retention

Gene
ENSG00000177943 | MAMDC4
Description
MAM domain containing 4 [Source:HGNC Symbol;Acc:HGNC:24083]
Coordinates
chr9:136853285-136854076:+
Coord C1 exon
chr9:136853285-136853907
Coord A exon
chr9:136853908-136853991
Coord C2 exon
chr9:136853992-136854076
Length
84 bp
Sequences
Splice sites
5' ss Seq
CGAGTGAGC
5' ss Score
5.16
3' ss Seq
TAAGAGCCTGTTCTCTTCAGGTG
3' ss Score
5.94
Exon sequences
Seq C1 exon
GTTACCACGGGGCCTCGCCCACCCTGGGCGCCCCCTTCGCCTGTGACTTCGAGCAGGACCCCTGCGGCTGGCGGGACATTAGTACCTCAGGCTACAGCTGGCTCCGAGACAGGGCAGGGGCCGCACTGGAGGGTCCTGGGCCTCACTCAGACCACACACTGGGCACCGACTTGGGTGAGGCCAGGGCAAGTCTCTGTGCGCCCCTGTCCCAATACCCTCCTTGCTCCCTGCCCCGTCTCCTGACCTCTCACCTGCGCCAGGCTGGTACATGGCCGTTGGAACCCACCGAGGGAAAGAGGCATCCACCGCAGCCCTGCGCTCGCCAACCCTGCGAGAGGCAGCCTCCTCTTGCAAGCTGAGGCTCTGGTACCACGCGGCCTCTGGAGGTGCACCCTGGACCCCCAAGGCTCGTGGGGGGTGCCCAAGGGGAGGGCGGGTGGGCAGCTGGGGACAAGCAGGGCCGCAGCTGCCCTGGGACCCCTGACATTGCAGATGTGGCTGAACTGCGGGTGGAGCTGACCCATGGCGCAGAGACCCTGACCCTGTGGCAGAGCACAGGGCCCTGGGGCCCTGGCTGGCAGGAGTTGGCAGTGACCACAGGCCGCATCCGGGGTGACTTCCGA
Seq A exon
GTGAGCTGGGAGGGTCTGGACGAGTGGGGGCCTTGAGGAGGGGTCTGGGCCCTGACTTAGGTCCTAAGAGCCTGTTCTCTTCAG
Seq C2 exon
GTGACCTTCTCTGCCACCCGAAATGCCACCCACAGGGGCGCTGTGGCTCTAGATGACCTAGAGTTCTGGGACTGTGGTCTGCCCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000177943:ENST00000485732:5
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.107 A=NA C2=0.000
Domain overlap (PFAM):

C1:
PF0062918=MAM=PU(28.0=74.6)
A:
NA
C2:
PF0062918=MAM=PD(16.6=89.7)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGACCCCTGACATTGCAGATG
R:
CATTTCGGGTGGCAGAGAAGG
Band lengths:
174-258
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