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BRIP1 (NM_032043) - BRCA1 interacting protein C-terminal helicase 1

Fanconi Anemia Group J Protein

Mutations Visualisation
The Mutations Visualisation needle plot provides a visual summary of the location, frequency and functional significance of all known mutations in your protein of interest. The placement of the pins corresponds to the location along the protein’s sequence, while the mutation impact and PTM associated with it is explained in the figure legend.

- Height (y axis) represents the number of occurrences of the mutation
- Horizontal position (x axis) represents the position along your protein’s amino acid sequence
- Pinhead colour represents the mutation impact (figure legend)
- X axis colouring represents the type of PTM associated with the mutation location (figure legend)

Zooming in/out
Too zoom in/out of a specific amino acid sequence, you can either use the magnifying glass icons below the needle plot, or you can use your mouse scroll wheel while hovering over the needle plot. Furthermore, you can enter a specific amino acid sequence range in the search bar and hit “Go!”

Saving the image
The Mutations Visualisation figure can be saved as an SVG or PDF format by clicking on the “Save image as” button at the top right of the plot.

Tracks
While the x axis of the Mutations Visualization plot indicates the amino acid sequence location, additional positional details are visualized using the tracks found here:

- Sequence track: amino acid sequence of your protein of interest
- Disorder track: (Not sure about this myself)
- Domains track: proteins domains identified in the amino acid sequence
- Mutations track: the specific amino acid substitutions detected at the specific site

If there is a specific region of the amino acid sequence you are interested in, you can zoom onto it using the magnifying glass icons below the Mutations Visualization plot. Alternatively, you can zoom in and out by using your mouse scroll wheel while hovering over the needle plot.

Protein summary
The protein summary provides brief information regarding your protein, namely: its full name, a brief description of its function, and genomic location of the coding gene.

This is preferred isoform of BRIP1 protein.
BRIP1: Fanconi anemia group J protein
Description:

The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-strand break repair function of breast cancer, type 1 (BRCA1). This gene may be a target of germline cancer-inducing mutations. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.

Publication Note:
This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.

Evidence data:
Transcript exon combination :: AF360549.1, BC101472.1 [ECO:0000332]

##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000259008.7/ ENSP00000259008.2 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END##

Strand
-
Chromosome
17
Protein
1249 residues
All mutations
1527
PTM sites
61
CDS
59,760,656 - 59,938,900
Transcription
59,756,546 - 59,940,920
40.67% of sequence is predicted to be disordered

External references
RefSeq, Entrez, Uniprot and Enzembl IDs related to your search query.

Mappings retrieved from NCBI & UniProt.
RefSeq
RefSeq IDs relevant to your search query.
Entrez
gene: 83990
UniProt
All links following an Uniprot accession refer to this accession.

Orange icon (
) next to an accession indicates that the entry belongs to SwissProt: a reviewed subset of Uniprot knowledgebase.

Rarely links to external resources may not work. This is common for new or unreviewed (
) entries.
Ensembl