Special

HsaINT0136510 @ hg19

Intron Retention

Gene
ENSG00000161800 | RACGAP1
Description
Rac GTPase activating protein 1 [Source:HGNC Symbol;Acc:9804]
Coordinates
chr12:50399039-50400419:-
Coord C1 exon
chr12:50400217-50400419
Coord A exon
chr12:50399176-50400216
Coord C2 exon
chr12:50399039-50399175
Length
1041 bp
Sequences
Splice sites
5' ss Seq
CTGGTGTGT
5' ss Score
4.96
3' ss Seq
TACTTTGCTTTGGTCTGTAGGAA
3' ss Score
8.05
Exon sequences
Seq C1 exon
AATTTATCCAGTTGGCGAAGGACTTTGAGGATTTCCGTAAAAAGTGGCAGAGGACTGACCATGAGCTGGGGAAATACAAGGATCTTTTGATGAAAGCAGAGACTGAGCGAAGTGCTCTGGATGTTAAGCTGAAGCATGCACGTAATCAGGTGGATGTAGAGATCAAACGGAGACAGAGAGCTGAGGCTGACTGCGAAAAGCTG
Seq A exon
GTGTGTATTGTTTTCCGTGCTAGAACAGTGATGATGCAGGAGGGGGAAGGCATTGTCTGACAGTTTCCACTTGCCAAATATACCTAGTTTCTTCTTCCACATTAAAGAACTGAAAGTGACCTGTTCTTTAACAGCTTGCCCATGATTAGAGCTGAAATTGCAGACTAGGAATCTTGTTCTTCATAATTTGAAATTTAAATGTTTTTGTCACTTAGACTTGAAACTTACTTAACAGACAGATTTCAAATGAGAACTTAAAGAATTAGAGGAAAAGGGAGGGAGGGAGATCCTAACGTACTTGATCTGTCACAAGTTATTGGCCATCCTTCATTGTTTATTTTAAGTGCTACCCGGAATATCCATCCTTACATGAGTAGCTGGTACTTTGTCATACATACAGGCAAGACAACTGTGACTCTTCTTTTCATCACCCCTCTCTAATTCAGGGTAAAAGGCTAGATGTATTCAACCAGTTGAGCAATGTGACTGACACAGAACACTATCATTTTGATGTGCCAGGATGGGTCATAATGCAAAGGAAAGCCTTTACTGGGAGGGACTAATCCATCTTGGTATACAGTGTTAGATGCCTCAGTAAACTCAAATTGTCTGGTTCCAGTGCATTATAGCTTTGTATCCATTTTAATGCATTTTGCTCCACTACTTTGAGAGGTGGGTGGCTGCTTTGATCCGTAGAAGCCAATATTTGTCCTGATAAAATGACACTAAAGTGTTTTTGCTATGTGAAATCTATTTTGGGACTCTCATTTTGCATTATTCTCCTCTTGGATTAGCAGGTTAATCCAAAAGTCTTGTAGCAGAAACTTCGCTGTTCTAGATGTAGTTCATTTTACCAGTCAGAAATCAGAGACACAATCTGGGTTTGATGTGAATTAATATGCTATTGGTGTAGCAGCCTTCCTGAAGGTCCATTTGCATAATGCTGCATTTTAATGTCTTCTGGTCTGCCTGTCCCATAAACTTGAGGTGAAGCTTTCTCCCCTGGCTAGTTATGATGTTTTACTTTGCTTTGGTCTGTAG
Seq C2 exon
GAACGACAGATTCAGCTGATTCGAGAGATGCTCATGTGTGACACATCTGGCAGCATTCAACTAAGCGAGGAGCAAAAATCAGCTCTGGCTTTTCTCAACAGAGGCCAACCATCCAGCAGCAATGCTGGGAACAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000161800-RACGAP1:NM_001126103:5
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=NA C2=0.348
Domain overlap (PFAM):

C1:
PF111803=DUF2968=FE(62.6=100),PF078886=CALCOCO1=FE(65.0=100),PF052956=Luciferase_N=PD(92.9=76.5),PF140731=Cep57_CLD=FE(64.4=100),PF0026115=Tropomyosin=PU(71.7=55.9)
A:
NA
C2:
PF111803=DUF2968=PD(14.4=34.8),PF078886=CALCOCO1=FE(31.9=100),PF140731=Cep57_CLD=FE(32.8=100),PF0026115=Tropomyosin=PD(41.2=60.9)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
TCCAGTTGGCGAAGGACTTTG
R:
CTTTTGTTCCCAGCATTGCT
Band lengths:
334-1375
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