TAF7L

protein-coding

TATA-box binding protein associated factor 7 like

Gene summary

This gene is similar to a mouse gene that encodes a TATA box binding protein-associated factor, and shows testis-specific expression. The encoded protein could be a spermatogenesis-specific component of the DNA-binding general transcription factor complex TFIID. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]

Previous symbols:

TAF2Q

MANE transcript

NM_001168474.2

Inheritance

—

ClinVar variants

P:1U:64B:7

Top phenotype

Spermatogenic failure, X-linked, 7

gnomAD constraint

pLI —, LoF o/e 0.06

Max pathogenic AF

—

Genomic locus

chrX:101,268,253-101,293,057

External References & Databases

Ensembl (ENSG00000102387)

Transcript & Mutation Effects

hg38 • Region Span ~24.8 kb

Loading mutation effect viewer...

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 TAF7L variants in ClinVar

4 Conditions Cataloged

not specifiedTotal: 38

not providedTotal: 3

Spermatogenic failure, X-linked, 7Total: 1

Congenital portosystemic shuntTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001168474.2. 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			6 clinvar		1 clinvar	7
missense			50 clinvar	6 clinvar		56
nonsense			2 clinvar			2
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)		1 clinvar	6 clinvar			7
Total	0	1	64	6	1	72

Highest pathogenic variant AF is 9.3101806e-7

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 11 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001168474.2	RefSeq	NP_001161946.1	12	MANE Select
ENST00000356784.2	Ensembl	ENSP00000349235.1	12	MANE Select
NM_001410720.1	RefSeq	NP_001397649.1	11	Standard
NM_024885.4	RefSeq	NP_079161.3	13	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Basal transcription factors - Homo sapiens (human)
Disease
Gene expression (Transcription)
Generic Transcription Pathway
Transcription of the HIV genome

Biological Process

regulation of transcription by RNA polymerase II
multicellular organism development
spermatogenesis
biological_process
cell differentiation

Molecular Function

molecular_function
transcription coactivator activity
transcription factor binding
histone acetyltransferase binding
transcription regulatory region DNA binding

Cellular Component

transcription factor TFIID complex
cytoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000372907
Coding exons: 13
Length: 24819
Individuals with no LoFs: 123484
Homozygous LoFs: 2
Heterozygous LoFs: 0
Defined: 123486
p: 0.00000810

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.144	169	174	0.969	0.0000134	3094
Missense (PolyPhen)		27	39.979	0.67535		777
Synonymous	0.760	57	64.8	0.880	0.00000543	792
Loss of Function	3.64	1	17.4	0.0574	0.00000126	310

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000013	0.0000091	rare
South Asian	0.000053	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Probably functions as a spermatogensis-specific component of the DNA-binding general transcription factor complex TFIID, a multimeric protein complex that plays a central role in mediating promoter responses to various activators and repressors. May play a role in spermatogenesis (By similarity). {ECO:0000250}.;

Recessive Scores

pRec: 0.0722

Intolerance Scores

LoFtool: 0.603
RVIS EVS: 0.31
RVIS percentile EVS: 72.38

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.00159

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium