TGIF2-RAB5IF

protein-coding

TGIF2-RAB5IF readthrough

Gene summary

This locus represents naturally occurring read-through transcription between the neighboring TGIF2 (TGFB-induced factor homeobox 2) and C20orf24 (chromosome 20 open reading frame 24) genes. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Dec 2010]

Previous symbols:

TGIF2-C20orf24

MANE transcript

N/A

Inheritance

—

ClinVar variants

U:1

Top phenotype

Inborn genetic diseases

gnomAD constraint

pLI —, LoF o/e 0.09

Max pathogenic AF

—

Genomic locus

chr20:36,574,553-36,612,384

External References & Databases

Ensembl (ENSG00000259399)

NCBI Gene (100527943)

HGNC:44664

GenCC

ClinVar (TGIF2-RAB5IF)

Transcript & Mutation Effects

hg38 • Region Span ~37.8 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to TGIF2-RAB5IF variants in ClinVar

4 Conditions Cataloged

Inborn genetic diseasesTotal: 6

Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2Total: 1

Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1Total: 1

10 conditionsTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			1 clinvar			1
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	1	0	0	1

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 2 of 2 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001199535.2	RefSeq	NP_001186464.1	4	Standard
ENST00000558530.1	Ensembl	ENSP00000454021.1	4	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000558530
Coding exons: 4
Length: 37832
Individuals with no LoFs: 125740
Homozygous LoFs: 0
Heterozygous LoFs: 8
Defined: 125748
p: 0.0000318

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.857	65	87.6	0.742	0.00000493	993
Missense (PolyPhen)		13	22.681	0.57317		224
Synonymous	0.495	34	37.9	0.898	0.00000226	304
Loss of Function	2.72	1	10.5	0.0949	6.32e-7	104

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.00014	0.00014	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000054	0.000054	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000018	0.000018	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP