HsaINT0003363 @ hg38
Intron Retention
Gene
ENSG00000123612 | ACVR1C
Description
activin A receptor type 1C [Source:HGNC Symbol;Acc:HGNC:18123]
Coordinates
chr2:157542706-157544612:-
Coord C1 exon
chr2:157544445-157544612
Coord A exon
chr2:157542863-157544444
Coord C2 exon
chr2:157542706-157542862
Length
1582 bp
Sequences
Splice sites
5' ss Seq
AAGGTATGT
5' ss Score
9.79
3' ss Seq
TGTTCTTCTTTGCTTCATAGGTA
3' ss Score
10.73
Exon sequences
Seq C1 exon
ATAATGGAACTTGGACTCAACTTTGGCTGGTATCTGAATATCATGAACAGGGCTCCTTATATGACTATTTGAATAGAAATATAGTGACCGTGGCTGGAATGATCAAGCTGGCGCTCTCAATTGCTAGTGGTCTGGCACACCTTCATATGGAGATTGTTGGTACACAAG
Seq A exon
GTATGTATTTCCTTTTCATTTTTTTTCCACTTTGAATATGAGGATAGAGGTACTTAGTTATATTTTAATTTATTAGGAGTAATTAATTATTATTTCTTTAGGCTGGGCACGGTGGCTTATACCCATAATCCCAGCATTTTGGTAGTCTAGGTGAGAGGATCACTTGAGGCCAGGAATTTGAGACCAGCCTGGGCAACATAGTGAGATCTCCATCTCTACCAAAAAAAAAAAAAAAAAAAAAATCTGGTTGTGGTGGCACATGCCTTTAGTCCCAGCCACTTGGGAGGCTGAGGTGGGAGGATCACTTGAGCCTGAAAGGTCCAGGCTGCAGTGAGTTACGATTGCACCACTGCACTCTAGTTTGGGTGACAGAACGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAGTAAAGAAACAATAAAGGTAATTTTTAAAGCTAAAGGTATTGTCATGATATAGCCAACTCTCATCAGTTGCTCACTATTTTGTATCTTATCCATAATAATATTTTTAAAAATTTATTCCTAGTGGTTCTATCTTTGCCATTTAGCATATGTACCCAGAGATCTTGCTTTAATGGCAAATGTCCTATATCCAGAGAATACAAATAATTTAAATGTTTACCTTTGATAATTAAAAAGTAATTGGAAAGTATAATATGATTTTGAAAAAAATATTTGTATATCATGTACTTGAAGCTAAATAGTACCTACTGCCATTTCTATTTGTTGAGTTAAGAGGTTGGCTCTAGAGAGTCAATTAGTCTAGACAGGGCAGTGGTTCTCACATTTGAACTCATGATCTCTTTACACTCTTAAAATTATTGAGGACTACAAAGGTTTTTGTGTATGTAGCTTATCTCTATTACTATTTACAATATTAGAAATTAAAACTGAGGAATTTAAAAGTACTTATTAATTTGCTTAAAATAACCAATTAAATGTTAACATAAATATTTTAAATATAACAACTTTTTTTCTAATACAAAAACTGATTAAGTGAAAATAATGGTTTTGTTTTACATTGTTGCAAATCCCTTTAATGTCTGTTTTAATGTCTGGATTTTCATACCTGTTCTTCATTCTGTCTGTTCTCATATGTTGTTTTGGTTGAAATATGTGAAGAAAAGATGGCGTCACACAGATGCGTAGTTAGAAAAGAGTTGCAAGGACCTTGGGGATCTTTTGGCTACAATTGAGAACTGCTGGTGTGGGGTAATAGAAGTTTTCAGACTTATTTTGTAAAACAATATTTGCCATGTTCTTATGAGCACATAGCAGTACTAATTCTTTCCCCATCTATTAAAAAATGTTTATTAGTGATCTAGTCATCTAGTGCTCTAAGCAATAGAGGCATGGTGATGAACAAAACAGCTACTGTCCTTATTCGTTTACAGTTTATTTGGGAGAGACAGATGATTCAGCATGTACATAAATAAACAAGATAATTTAGATAGTGACAAGAGCTTTGAAGAAAACTCTTTTTGAATTAGCTCATTTTGAGCTAAGTCTTCAGGATGATTTCTCTTGAACAGTCTCCGGTAAAGAAAAAAATGAATATGTTCTTCTTTGCTTCATAG
Seq C2 exon
GTAAACCTGCTATTGCTCATCGAGACATAAAATCAAAGAATATCTTAGTGAAAAAGTGTGAAACTTGTGCCATAGCGGACTTAGGGTTGGCTGTGAAGCATGATTCAATACTGAACACTATCGACATACCTCAGAATCCTAAAGTGGGAACCAAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123612:ENST00000243349:5
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0006920=Pkinase=PD(45.8=96.5)
A:
NA
C2:
PF0006920=Pkinase=FE(18.1=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGAACTTGGACTCAACTTTGGC
R:
CTTGGTTCCCACTTTAGGATTCTGA
Band lengths:
318-1900
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