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Report for CCDS6511.2 (current version)

CCDS Status Species Chrom. Gene CCDS Release NCBI Annotation Release Ensembl Annotation Release Links
6511.2 Public Homo sapiens 9 CDKN2A 24 110 108 CCDS HistoryNCBI Gene:1029Re-query CCDS DB by CCDS ID:6511.2Re-query CCDS DB by GeneID:1029See the combined annotation on chromosome 9 in Sequence Viewer

Public Note for CCDS 6511.1
The coding region has been updated to shorten the N-terminus to one that is more supported by the available transcript and publication data. The previously represented upstream start codon, although moderately well-conserved, occurs more 5' of the vast majority of transcripts and the major transcription start site mapped in PMID:7541708; this upstream start codon may be used rarely if at all, and there is currently no experimental evidence for its use. It should also be noted that this transcript variant, which encodes the p14ARF isoform, is a candidate for nonsense-mediated mRNA decay (NMD). However, this is a well-characterized isoform with homology support, and several studies, including PMIDs 9724636, 18004878, 18583933, 19115249 and 12082609, show in vivo evidence for this isoform. This transcript can therefore escape NMD at least some of the time. In PMID:20212158, it is speculated that the relatively long dual coding region shared with the p16INK4a variant (CCDS6510.1), and the resulting disordered protein structure encoded by that region, may aid in NMD escape.

Public since: CCDS release 1, NCBI annotation release 35.1, Ensembl annotation release 23

Review status: Reviewed (by RefSeq, Havana and CCDS collaboration)


Attributes
Nonsense-mediated decay (NMD) candidate

Sequence IDs included in CCDS 6511.2

Original Current Source Nucleotide ID Protein ID MANE Status in CCDS Seq. Status Links
Original member Current member EBI ENST00000530628.2 ENSP00000432664.2 Accepted alive Link to Ensembl Transcript Viewer:ENST00000530628.2Link to Ensembl Protein Viewer:ENSP00000432664.2Re-query CCDS DB by Nucleotide ID:ENST00000530628Re-query CCDS DB by Protein ID:ENSP00000432664
Original member Current member EBI ENST00000579755.2 ENSP00000462950.1 MANE Plus Clinical Accepted alive Link to Ensembl Transcript Viewer:ENST00000579755.2Link to Ensembl Protein Viewer:ENSP00000462950.1Re-query CCDS DB by Nucleotide ID:ENST00000579755Re-query CCDS DB by Protein ID:ENSP00000462950
Original member Current member NCBI NM_058195.4 NP_478102.2 MANE Plus Clinical Accepted alive Link to Nucleotide Sequence:NM_058195.4Link to Protein Sequence:NP_478102.2Re-query CCDS DB by Nucleotide ID:NM_058195Re-query CCDS DB by Protein ID:NP_478102Link to BLAST:NP_478102.2

RefSeq Length Related UniProtKB/SwissProt Length Identity Gaps Mismatches
NP_478102.2 132 Q8N726-1 132 100% 0 0

Chromosomal Locations for CCDS 6511.2

Assembly GRCh38.p14 (GCF_000001405.40)

On '-' strand of Chromosome 9 (NC_000009.12)
Genome Browser links: Link to NCBI NucleotideLink to UCSC Genome Browser on chromosome 9Link to Ensembl Genome Browser on chromosome 9See the combined annotation on chromosome 9 in Sequence Viewer

Chromosome Start Stop Links
9 21971003 21971208 Link to NCBI NucleotideLink to UCSC Genome Browser on chromosome 9Link to Ensembl Genome Browser on chromosome 9
9 21994139 21994331 Link to NCBI NucleotideLink to UCSC Genome Browser on chromosome 9Link to Ensembl Genome Browser on chromosome 9

CCDS Sequence Data
Blue highlighting indicates alternating exons.
Red highlighting indicates amino acids encoded across a splice junction.
 
Mouse over the nucleotide or protein sequence below and click on the highlighted codon or residue to select the pair.

Nucleotide Sequence (399 nt):
ATGGTGCGCAGGTTCTTGGTGACCCTCCGGATTCGGCGCGCGTGCGGCCCGCCGCGAGTGAGGGTTTTCG
TGGTTCACATCCCGCGGCTCACGGGGGAGTGGGCAGCGCCAGGGGCGCCCGCCGCTGTGGCCCTCGTGCT
GATGCTACTGAGGAGCCAGCGTCTAGGGCAGCAGCCGCTTCCTAGAAGACCAGGTCATGATGATGGGCAG
CGCCCGAGTGGCGGAGCTGCTGCTGCTCCACGGCGCGGAGCCCAACTGCGCCGACCCCGCCACTCTCACC
CGACCCGTGCACGACGCTGCCCGGGAGGGCTTCCTGGACACGCTGGTGGTGCTGCACCGGGCCGGGGCGC
GGCTGGACGTGCGCGATGCCTGGGGCCGTCTGCCCGTGGACCTGGCTGA

Translation (132 aa):
MVRRFLVTLRIRRACGPPRVRVFVVHIPRLTGEWAAPGAPAAVALVLMLLRSQRLGQQPLPRRPGHDDGQ
RPSGGAAAAPRRGAQLRRPRHSHPTRARRCPGGLPGHAGGAAPGRGAAGRARCLGPSARGPG


Links Key
 Links to:   History report
  BLAST report
  Entrez Gene
  Nucleotide report
  Protein report
 Re-query CCDS DB by:   CCDS ID
  Gene ID
  Nucleotide ID
  Protein ID
 Genome Browser Links:   Ensembl Genome Browser
  NCBI Sequence Viewer
  UCSC Genome Browser
  VEGA Genome Browser

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