HsaINT0098097 @ hg38
Intron Retention
Gene
ENSG00000127603 | MACF1
Description
microtubule-actin crosslinking factor 1 [Source:HGNC Symbol;Acc:HGNC:13664]
Coordinates
chr1:39283409-39284185:+
Coord C1 exon
chr1:39283409-39283515
Coord A exon
chr1:39283516-39284065
Coord C2 exon
chr1:39284066-39284185
Length
550 bp
Sequences
Splice sites
5' ss Seq
ACGGTAAAA
5' ss Score
6.53
3' ss Seq
TGTTTACCTTCTGGCAATAGGAA
3' ss Score
6.93
Exon sequences
Seq C1 exon
ATGTGGATGTGCCATCTCCAGATGAAAAGTCTGTAATCACTTATGTGTCTTCGATTTATGATGCCTTCCCTAAAGTTCCTGAGGGTGGAGAAGGGATCAGTGCTACG
Seq A exon
GTAAAAGAACATTTTCCTAGAAGGCCTTCTGACTTTGATTCATTTGGGTGAAATGCATTGGTTAGACACTTTCTTAAGCACTTATGGTATACTCATGGTATCAAACTATATATCCAGTATCTTTATCATACATGGACATTATCCTTGGCCCTGGAAATGAGTCTAGATATTGCTAATTTTGTAACAATTAGCATAGACTATTTGGTGCTAAATGCCAGCAAAGAATGTCTCTTTCATCCCCAGCTGTAATTCAAGATGAGGAAGTGTTTTATCAGTCACTTATGTATCAGCTTGATTAGGTAGATCATGGCTCTTTTCAGAATATTTTTAGTAGCTTGGTTTGTAGCCTTTCTTAGTGTCAGGAAATTGAACCCCATCCTGAGAGCCCTTGAGGAGCTTTGAAGCTAGTACTGTGAGCATTAAACTGAGCAGCATCTAGGCAATTAAAGGAAATGGATTTTATATAGTTTGGAGTGGCCTGAGCTACTTTCTCTTGTGCTTGTTTTGGATATTGCTAATCAGGTGTGTGATGTTTACCTTCTGGCAATAG
Seq C2 exon
GAAGTGGACTCCAGGTGGCAAGAATACCAAAGCCGAGTGGACTCCCTCATTCCCTGGATCAAACAGCATACAATACTGATGTCAGATAAAACTTTTCCCCAAAACCCTGTTGAACTAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000127603:ENST00000361689:8
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.056 A=NA C2=0.025
Domain overlap (PFAM):
C1:
PF0030726=CH=PD(22.5=63.9)
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGATGTGCCATCTCCAGAT
R:
TTAGTTCAACAGGGTTTTGGGGA
Band lengths:
222-772
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development