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Report for CCDS4579.1 (current version)

CCDS Status Species Chrom. Gene CCDS Release NCBI Annotation Release Ensembl Annotation Release Links
4579.1 Public Homo sapiens 6 HFE 24 110 108 CCDS HistoryNCBI Gene:3077Re-query CCDS DB by CCDS ID:4579.1Re-query CCDS DB by GeneID:3077See the combined annotation on chromosome 6 in Sequence Viewer

Public Note for CCDS 4579.1
This CCDS ID represents a variant of the HFE gene that lacks an internal coding exon compared to the longest variant, which is represented by CCDS4578.1. This results in an isoform that includes the Immunoglobulin constant region (IGc) domain but lacks a portion of the Class I Histocompatibility antigen (MHC_I) domain.

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

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

Sequence IDs included in CCDS 4579.1

Original Current Source Nucleotide ID Protein ID MANE Status in CCDS Seq. Status Links
Original member Current member EBI ENST00000317896.11 ENSP00000313776.7 Accepted alive Link to Ensembl Transcript Viewer:ENST00000317896.11Link to Ensembl Protein Viewer:ENSP00000313776.7Re-query CCDS DB by Nucleotide ID:ENST00000317896Re-query CCDS DB by Protein ID:ENSP00000313776
Original member Current member NCBI NM_139004.3 NP_620573.1 Accepted alive Link to Nucleotide Sequence:NM_139004.3Link to Protein Sequence:NP_620573.1Re-query CCDS DB by Nucleotide ID:NM_139004Re-query CCDS DB by Protein ID:NP_620573Link to BLAST:NP_620573.1

RefSeq Length Related UniProtKB/SwissProt Length Identity Gaps Mismatches
NP_620573.1 256 Q30201-7 256 100% 0 0

Chromosomal Locations for CCDS 4579.1

Assembly GRCh38.p14 (GCF_000001405.40)

On '+' strand of Chromosome 6 (NC_000006.12)
Genome Browser links: Link to NCBI NucleotideLink to UCSC Genome Browser on chromosome 6Link to Ensembl Genome Browser on chromosome 6See the combined annotation on chromosome 6 in Sequence Viewer

Chromosome Start Stop Links
6 26087441 26087516 Link to NCBI NucleotideLink to UCSC Genome Browser on chromosome 6Link to Ensembl Genome Browser on chromosome 6
6 26090841 26091104 Link to NCBI NucleotideLink to UCSC Genome Browser on chromosome 6Link to Ensembl Genome Browser on chromosome 6
6 26092685 26092960 Link to NCBI NucleotideLink to UCSC Genome Browser on chromosome 6Link to Ensembl Genome Browser on chromosome 6
6 26093119 26093232 Link to NCBI NucleotideLink to UCSC Genome Browser on chromosome 6Link to Ensembl Genome Browser on chromosome 6
6 26094186 26094226 Link to NCBI NucleotideLink to UCSC Genome Browser on chromosome 6Link to Ensembl Genome Browser on chromosome 6

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 (771 nt):
ATGGGCCCGCGAGCCAGGCCGGCGCTTCTCCTCCTGATGCTTTTGCAGACCGCGGTCCTGCAGGGGCGCT
TGCTGCGTTCACACTCTCTGCACTACCTCTTCATGGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTT
TGAAGCTTTGGGCTACGTGGATGACCAGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTGGAGCCC
CGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAAGGGT
GGGATCACATGTTCACTGTTGACTTCTGGACTATTATGGAAAATCACAACCACAGCAAGGTGCCTCCTTT
GGTGAAGGTGACACATCATGTGACCTCTTCAGTGACCACTCTACGGTGTCGGGCCTTGAACTACTACCCC
CAGAACATCACCATGAAGTGGCTGAAGGATAAGCAGCCAATGGATGCCAAGGAGTTCGAACCTAAAGACG
TATTGCCCAATGGGGATGGGACCTACCAGGGCTGGATAACCTTGGCTGTACCCCCTGGGGAAGAGCAGAG
ATATACGTGCCAGGTGGAGCACCCAGGCCTGGATCAGCCCCTCATTGTGATCTGGGAGCCCTCACCGTCT
GGCACCCTAGTCATTGGAGTCATCAGTGGAATTGCTGTTTTTGTCGTCATCTTGTTCATTGGAATTTTGT
TCATAATATTAAGGAAGAGGCAGGGTTCAAGAGGAGCCATGGGGCACTACGTCTTAGCTGAACGTGAGTG
A

Translation (256 aa):
MGPRARPALLLLMLLQTAVLQGRLLRSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVFYDHESRRVEP
RTPWVSSRISSQMWLQLSQSLKGWDHMFTVDFWTIMENHNHSKVPPLVKVTHHVTSSVTTLRCRALNYYP
QNITMKWLKDKQPMDAKEFEPKDVLPNGDGTYQGWITLAVPPGEEQRYTCQVEHPGLDQPLIVIWEPSPS
GTLVIGVISGIAVFVVILFIGILFIILRKRQGSRGAMGHYVLAERE


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

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