TAF13

Summary

TAF13 (TATA-box binding protein associated factor 13, HGNC:11546) is a protein-coding gene on chromosome 1p13.3, encoding Transcription initiation factor TFIID subunit 13 (Q15543). The TFIID basal transcription factor complex plays a major role in the initiation of RNA polymerase II (Pol II)-dependent transcription. It is a selective cancer dependency (DepMap: 35.2% of cell lines).

Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes a small subunit associated with a subset of TFIID complexes. This subunit interacts with TBP and with two other small subunits of TFIID, TAF10 and TAF11. There is a pseudogene located on chromosome 6.

Source: NCBI Gene 6884 — RefSeq curated summary.

At a glance

• Gene–disease (curated): intellectual disability, autosomal recessive 60 (Strong, GenCC) — +1 more curated relationship
• Clinical variants (ClinVar): 18 total — 1 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 24
• Cancer dependency (DepMap): dependent in 35.2% of screened cell lines
• Dosage sensitivity (ClinGen): haploinsufficiency little evidence, triplosensitivity no evidence
• MANE Select transcript: NM_005645

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11546
Approved symbol	TAF13
Name	TATA-box binding protein associated factor 13
Location	1p13.3
Locus type	gene with protein product
Status	Approved
Aliases	TAFII18
Ensembl gene	ENSG00000197780
Ensembl biotype	protein_coding
OMIM	600774
Entrez	6884

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000338366, ENST00000461096, ENST00000692048

RefSeq mRNA: 1 — MANE Select: NM_005645 NM_005645

CCDS: CCDS30788

Canonical transcript exons

ENST00000338366 — 4 exons

Exon	Start	End
ENSE00001400407	109074987	109075065
ENSE00001451325	109075921	109076003
ENSE00001791787	109066135	109066232
ENSE00001955982	109064140	109064693

Expression profiles

Bgee: expression breadth ubiquitous, 270 present calls, max score 98.28.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 66.3087 / max 5983.1448, expressed in 1810 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
13668	66.3087	1810

Top tissues by expression

294 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
medial globus pallidus	UBERON:0002477	98.28	gold quality
lateral nuclear group of thalamus	UBERON:0002736	98.26	gold quality
gingival epithelium	UBERON:0001949	98.22	gold quality
globus pallidus	UBERON:0001875	97.99	gold quality
esophagus squamous epithelium	UBERON:0006920	97.78	gold quality
Brodmann (1909) area 23	UBERON:0013554	97.77	gold quality
amniotic fluid	UBERON:0000173	97.72	gold quality
substantia nigra pars reticulata	UBERON:0001966	97.52	gold quality
gingiva	UBERON:0001828	97.46	gold quality
endothelial cell	CL:0000115	97.31	gold quality
pons	UBERON:0000988	97.29	gold quality
subthalamic nucleus	UBERON:0001906	97.21	gold quality
substantia nigra pars compacta	UBERON:0001965	97.19	gold quality
superior vestibular nucleus	UBERON:0007227	97.02	gold quality
inferior vagus X ganglion	UBERON:0005363	96.98	gold quality
visceral pleura	UBERON:0002401	96.83	gold quality
superficial temporal artery	UBERON:0001614	96.80	gold quality
lateral globus pallidus	UBERON:0002476	96.56	gold quality
germinal epithelium of ovary	UBERON:0001304	96.54	gold quality
penis	UBERON:0000989	96.53	gold quality
tendon of biceps brachii	UBERON:0008188	96.52	gold quality
ventral tegmental area	UBERON:0002691	96.30	gold quality
parietal pleura	UBERON:0002400	96.23	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	96.22	gold quality
mucosa of paranasal sinus	UBERON:0005030	96.13	gold quality
biceps brachii	UBERON:0001507	96.09	gold quality
tibia	UBERON:0000979	95.76	gold quality
epithelium of nasopharynx	UBERON:0001951	95.71	gold quality
oral cavity	UBERON:0000167	95.69	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	95.67	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-MTAB-6819	yes	357.77
E-GEOD-93593	yes	7.35
E-MTAB-7606	no	84.81
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

19 targeting TAF13, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-381-3P	99.93	71.87	2854
HSA-MIR-300	99.92	71.76	2856
HSA-MIR-4666A-5P	99.41	69.72	1887
HSA-MIR-2115-3P	99.31	69.68	2026
HSA-MIR-6768-3P	99.14	67.38	1319
HSA-MIR-4478	99.07	65.16	2320
HSA-MIR-361-5P	98.95	70.16	1340
HSA-MIR-2355-5P	98.83	65.51	1589
HSA-MIR-942-3P	98.81	69.04	876
HSA-MIR-3929	98.32	65.58	1026
HSA-MIR-4484	96.35	64.08	382

Functional genomics

ClinGen dosage: haploinsufficiency 1 (little evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map DepMap (CRISPR cell-line fitness): dependent in 35.2% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 2)

• two homozygous missense are associated with autosomal-recessive intellectual disability and microcephaly (PMID:28257693)
• In an integrative approach combining crystal coordinates, biochemical analyses and data from cross-linking mass-spectrometry (CLMS), the authors determine the architecture of the TAF11/TAF13/TBP complex, revealing TAF11/TAF13 interaction with the DNA binding surface of TBP. (PMID:29111974)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	taf13	ENSDARG00000070834
mus_musculus	Taf13	ENSMUSG00000048100
rattus_norvegicus	Taf13	ENSRNOG00000020315
drosophila_melanogaster	Taf13	FBGN0032847
caenorhabditis_elegans		WBGENE00006397

Paralogs (1): SUPT3H (ENSG00000196284)

Protein

Protein identifiers

Transcription initiation factor TFIID subunit 13 — Q15543 (reviewed: Q15543)

Alternative names: Transcription initiation factor TFIID 18 kDa subunit

All UniProt accessions (3): A0A8I5KR19, A0A8J9AJQ9, Q15543

UniProt curated annotations — full annotation on UniProt →

Function. The TFIID basal transcription factor complex plays a major role in the initiation of RNA polymerase II (Pol II)-dependent transcription. TFIID recognizes and binds promoters via its subunit TBP, a TATA-box-binding protein, and promotes assembly of the pre-initiation complex (PIC). The TFIID complex consists of TBP and TBP-associated factors (TAFs), including TAF1, TAF2, TAF3, TAF4, TAF5, TAF6, TAF7, TAF8, TAF9, TAF10, TAF11, TAF12 and TAF13. TAF13, together with TAF11 and TBP, play key roles during promoter binding by the TFIID and TFIIA transcription factor complexes.

Subunit / interactions. Component of the TFIID basal transcription factor complex, composed of TATA-box-binding protein TBP, and a number of TBP-associated factors (TAFs), including TAF1, TAF2, TAF3, TAF4, TAF5, TAF6, TAF7, TAF8, TAF9, TAF10, TAF11, TAF12 and TAF13. Interacts with TBP, and more strongly with TAF10 and TAF11.

Subcellular location. Nucleus.

Disease relevance. Intellectual developmental disorder, autosomal recessive 60 (MRT60) [MIM:617432] A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT60 patients display mild intellectual disability, delayed psychomotor development, learning difficulties, and poor overall growth with variable microcephaly. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. The binding of TAF10 and TAF11 requires distinct domains of TAF13.

Similarity. Belongs to the TAF13 family.

RefSeq proteins (1): NP_005636* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003195	TFIID_TAF13	Family
IPR009072	Histone-fold	Homologous_superfamily

Pfam: PF02269

UniProt features (11 total): helix 4, sequence variant 2, chain 1, domain 1, region of interest 1, compositionally biased region 1, strand 1

Structure

Experimental structures (PDB)

28 structures.

PDB	Method	Resolution (Å)
1BH9	X-RAY DIFFRACTION	2.6
1BH8	X-RAY DIFFRACTION	3
7EGF	ELECTRON MICROSCOPY	3.16
7EGB	ELECTRON MICROSCOPY	3.3
7EG9	ELECTRON MICROSCOPY	3.7
7EGC	ELECTRON MICROSCOPY	3.9
7ENA	ELECTRON MICROSCOPY	4.07
7EGA	ELECTRON MICROSCOPY	4.1
7ENC	ELECTRON MICROSCOPY	4.13
8GXS	ELECTRON MICROSCOPY	4.16
7EDX	ELECTRON MICROSCOPY	4.5
8GXQ	ELECTRON MICROSCOPY	5.04
8WAK	ELECTRON MICROSCOPY	5.47
8WAP	ELECTRON MICROSCOPY	5.85
8WAN	ELECTRON MICROSCOPY	6.07
8WAS	ELECTRON MICROSCOPY	6.13
7EG7	ELECTRON MICROSCOPY	6.2
8WAQ	ELECTRON MICROSCOPY	6.29
8WAO	ELECTRON MICROSCOPY	6.4
7EGD	ELECTRON MICROSCOPY	6.75
8WAR	ELECTRON MICROSCOPY	7.2
7EG8	ELECTRON MICROSCOPY	7.4
8WAL	ELECTRON MICROSCOPY	8.52
7EGJ	ELECTRON MICROSCOPY	8.64
7EGE	ELECTRON MICROSCOPY	9
6MZD	ELECTRON MICROSCOPY	9.8
7EGI	ELECTRON MICROSCOPY	9.82
6MZL	ELECTRON MICROSCOPY	23

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q15543-F1	83.65	0.68

Function

Pathways and Gene Ontology

Reactome pathways

21 pathways

ID	Pathway
R-HSA-167161	HIV Transcription Initiation
R-HSA-167162	RNA Polymerase II HIV Promoter Escape
R-HSA-167172	Transcription of the HIV genome
R-HSA-674695	RNA Polymerase II Pre-transcription Events
R-HSA-6804756	Regulation of TP53 Activity through Phosphorylation
R-HSA-6807505	RNA polymerase II transcribes snRNA genes
R-HSA-73776	RNA Polymerase II Promoter Escape
R-HSA-73779	RNA Polymerase II Transcription Pre-Initiation And Promoter Opening
R-HSA-75953	RNA Polymerase II Transcription Initiation
R-HSA-76042	RNA Polymerase II Transcription Initiation And Promoter Clearance
R-HSA-162587	HIV Life Cycle
R-HSA-162599	Late Phase of HIV Life Cycle
R-HSA-162906	HIV Infection
R-HSA-1643685	Disease
R-HSA-212436	Generic Transcription Pathway
R-HSA-3700989	Transcriptional Regulation by TP53
R-HSA-5633007	Regulation of TP53 Activity
R-HSA-5663205	Infectious disease
R-HSA-73857	RNA Polymerase II Transcription
R-HSA-74160	Gene expression (Transcription)
R-HSA-9824446	Viral Infection Pathways

MSigDB gene sets: 202 (showing top): BROWNE_HCMV_INFECTION_30MIN_DN, HOFMANN_CELL_LYMPHOMA_UP, GOBP_POSITIVE_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, BROWNE_HCMV_INFECTION_16HR_UP, WEI_MYCN_TARGETS_WITH_E_BOX, REACTOME_HIV_INFECTION, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, GOBP_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, MARTIN_VIRAL_GPCR_SIGNALING_DN, GOBP_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, GOBP_TRANSCRIPTION_INITIATION_AT_RNA_POLYMERASE_II_PROMOTER, GOBP_MRNA_TRANSCRIPTION, GOCC_RNA_POLYMERASE_COMPLEX, GOBP_PROTEIN_DNA_COMPLEX_ORGANIZATION

GO Biological Process (6): DNA-templated transcription initiation (GO:0006352), transcription by RNA polymerase II (GO:0006366), transcription initiation at RNA polymerase II promoter (GO:0006367), mRNA transcription by RNA polymerase II (GO:0042789), RNA polymerase II preinitiation complex assembly (GO:0051123), positive regulation of transcription initiation by RNA polymerase II (GO:0060261)

GO Molecular Function (5): DNA binding (GO:0003677), RNA polymerase II general transcription initiation factor activity (GO:0016251), TBP-class protein binding (GO:0017025), protein heterodimerization activity (GO:0046982), protein binding (GO:0005515)

GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), transcription factor TFIID complex (GO:0005669), nucleolus (GO:0005730)

Reactome top-level categories

Rollup of top-12 pathways:

Category	Pathways
RNA Polymerase II Transcription	5
Transcription of the HIV genome	2
RNA Polymerase II Transcription Initiation And Promoter Clearance	2
Late Phase of HIV Life Cycle	1
Regulation of TP53 Activity	1
HIV Infection	1
HIV Life Cycle	1
Viral Infection Pathways	1
Generic Transcription Pathway	1
Transcriptional Regulation by TP53	1
Disease	1
Gene expression (Transcription)	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transcription by RNA polymerase II	3
DNA-templated transcription	2
transcription initiation at RNA polymerase II promoter	2
nuclear lumen	2
RNA biosynthetic process	1
DNA-templated transcription initiation	1
mRNA transcription	1
transcription preinitiation complex assembly	1
positive regulation of transcription by RNA polymerase II	1
regulation of transcription initiation by RNA polymerase II	1
positive regulation of DNA-templated transcription initiation	1
nucleic acid binding	1
general transcription initiation factor activity	1
general transcription initiation factor binding	1
protein dimerization activity	1
binding	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1
RNA polymerase II, holoenzyme	1
RNA polymerase II transcription regulator complex	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

796 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TAF13	TAF11	Q15544	998
TAF13	TAF10	Q12962	955
TAF13	TBP	P20226	892
TAF13	TAF3	Q5VWG9	889
TAF13	TAF1	P21675	858
TAF13	TAF2	Q6P1X5	825
TAF13	TAF6	P49848	772
TAF13	TAF12	Q16514	771
TAF13	TAF7	Q15545	770
TAF13	TAF8	Q7Z7C8	758
TAF13	TAF5	Q15542	757
TAF13	SF3B3	Q15393	726
TAF13	TAF9	Q16594	723
TAF13	TAF4	O00268	708
TAF13	GTF2B	Q00403	636

IntAct

32 interactions, top by confidence:

A	B	Type	Score
TAF12	TAF4	psi-mi:“MI:0914”(association)	0.760
TAF13	MTUS2	psi-mi:“MI:0915”(physical association)	0.670
TAF10	TAF4	psi-mi:“MI:0914”(association)	0.650
TAF10	TAF4	psi-mi:“MI:0915”(physical association)	0.650
MTUS2	TAF13	psi-mi:“MI:0915”(physical association)	0.560
TAF13	MTUS2	psi-mi:“MI:0915”(physical association)	0.560
TAF8	TAF4	psi-mi:“MI:0914”(association)	0.530
SPATA25	TAF4	psi-mi:“MI:0914”(association)	0.530
TAF7L	TAF4	psi-mi:“MI:0914”(association)	0.530
GTF2A2	TAF4	psi-mi:“MI:0915”(physical association)	0.490
TAF13	TAF11	psi-mi:“MI:0407”(direct interaction)	0.440
TAF11	TAF13	psi-mi:“MI:0407”(direct interaction)	0.440
NAF1	C1orf226	psi-mi:“MI:0914”(association)	0.350
CERK	WDR46	psi-mi:“MI:0914”(association)	0.350
NLRP2	RBBP6	psi-mi:“MI:0914”(association)	0.350
Xpo1	IFT56	psi-mi:“MI:0914”(association)	0.350
	TAF4	psi-mi:“MI:0914”(association)	0.350
TAF7L	TAF4	psi-mi:“MI:0914”(association)	0.350
STK3	MYO1C	psi-mi:“MI:0914”(association)	0.350
MED26		psi-mi:“MI:0914”(association)	0.350
TAF3	TAF4	psi-mi:“MI:0914”(association)	0.350
TAF13	MTUS2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (59): MTUS2 (Two-hybrid), TAF13 (Protein-peptide), TAF13 (Affinity Capture-MS), TAF13 (Affinity Capture-MS), TAF13 (Affinity Capture-MS), TAF13 (Affinity Capture-MS), TBP (Two-hybrid), TAF13 (Affinity Capture-MS), TAF13 (Affinity Capture-MS), TAF13 (Reconstituted Complex), TAF13 (Reconstituted Complex), TAF11 (Reconstituted Complex), TAF13 (Affinity Capture-Western), TAF13 (Affinity Capture-Western), TAF13 (Affinity Capture-Western)

ESM2 similar proteins: A7Y521, B5DEN9, O14737, O82197, O88544, O94973, P17427, P18484, P48444, P50502, P53619, P56812, P61216, Q0VCK5, Q13098, Q148M7, Q15543, Q2HJH9, Q2KI56, Q32L19, Q3SZA0, Q3T178, Q4QQV8, Q4R5E6, Q5F418, Q5R648, Q5R9W6, Q5RA77, Q5RBR3, Q5RBT0, Q5RF31, Q5XGW6, Q5XJY5, Q5ZHP5, Q5ZL57, Q61187, Q66H80, Q6DGW9, Q6NRT5, Q6ZVM7

Diamond homologs: O60076, P11747, P61216, Q148M7, Q15543, Q54CN8, Q5R9W6, Q6NQH4, O13472, O14311, O75486, P06844

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
TAF13	“form complex”	TFIID	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 21 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
HIV Transcription Initiation	8	116.5×	9e-15
RNA Polymerase II HIV Promoter Escape	8	116.5×	9e-15
RNA Polymerase II Promoter Escape	8	116.5×	9e-15
RNA Polymerase II Transcription Pre-Initiation And Promoter Opening	8	116.5×	9e-15
RNA Polymerase II Transcription Initiation	8	116.5×	9e-15
RNA Polymerase II Transcription Initiation And Promoter Clearance	8	116.5×	9e-15
Transcription of the HIV genome	8	86.5×	1e-13
Late Phase of HIV Life Cycle	7	73.5×	2e-11

GO biological processes:

GO term	Partners	Fold	FDR
transcription initiation at RNA polymerase II promoter	7	145.6×	9e-13
RNA polymerase II preinitiation complex assembly	9	135.9×	4e-16
positive regulation of transcription initiation by RNA polymerase II	8	120.8×	6e-14
mRNA transcription by RNA polymerase II	6	110.1×	4e-10
transcription by RNA polymerase II	5	19.6×	1e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

18 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	1
Uncertain significance	8
Likely benign	3
Benign	1

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
375727	NM_005645.4(TAF13):c.92T>A (p.Leu31His)	Pathogenic
1299252	NM_005645.4(TAF13):c.204+1G>T	Likely pathogenic

SpliceAI

377 predictions. Top by Δscore:

Variant	Effect	Δscore
1:109064692:GT:G	acceptor_gain	1.0000
1:109064694:C:CC	acceptor_gain	1.0000
1:109066128:ATCTT:A	donor_loss	1.0000
1:109066129:TCTTA:T	donor_loss	1.0000
1:109066130:CTTAC:C	donor_loss	1.0000
1:109066131:TTA:T	donor_loss	1.0000
1:109066132:TACCA:T	donor_loss	1.0000
1:109066133:A:AC	donor_gain	1.0000
1:109066133:A:T	donor_loss	1.0000
1:109066134:C:CA	donor_loss	1.0000
1:109066134:C:CC	donor_gain	1.0000
1:109066228:TCGCA:T	acceptor_gain	1.0000
1:109066229:CGCA:C	acceptor_gain	1.0000
1:109066229:CGCAC:C	acceptor_gain	1.0000
1:109066230:GCA:G	acceptor_gain	1.0000
1:109066231:CA:C	acceptor_gain	1.0000
1:109066231:CAC:C	acceptor_gain	1.0000
1:109066231:CACT:C	acceptor_loss	1.0000
1:109066232:AC:A	acceptor_loss	1.0000
1:109066233:C:CC	acceptor_gain	1.0000
1:109066233:CTGT:C	acceptor_loss	1.0000
1:109066234:T:A	acceptor_loss	1.0000
1:109074985:A:AC	donor_gain	1.0000
1:109074986:C:CC	donor_gain	1.0000
1:109074986:CA:C	donor_gain	1.0000
1:109074986:CATT:C	donor_gain	1.0000
1:109075062:CAAA:C	acceptor_gain	1.0000
1:109075066:C:CC	acceptor_gain	1.0000
1:109075917:TCA:T	donor_loss	1.0000
1:109075918:CACCG:C	donor_loss	1.0000

AlphaMissense

821 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:109064547:A:C	F117L	1.000
1:109064547:A:T	F117L	1.000
1:109064548:A:C	F117C	1.000
1:109064548:A:G	F117S	1.000
1:109064549:A:G	F117L	1.000
1:109064552:C:G	A116P	1.000
1:109064556:T:A	R114S	1.000
1:109064556:T:G	R114S	1.000
1:109064557:C:A	R114I	1.000
1:109064557:C:G	R114T	1.000
1:109064560:G:T	A113D	1.000
1:109064561:C:G	A113P	1.000
1:109064565:T:A	K111N	1.000
1:109064565:T:G	K111N	1.000
1:109064569:A:G	L110S	1.000
1:109064587:A:G	L104P	1.000
1:109064587:A:T	L104H	1.000
1:109064590:A:C	L103W	1.000
1:109064590:A:G	L103S	1.000
1:109064599:A:T	V100D	1.000
1:109064601:C:A	R99S	1.000
1:109064601:C:G	R99S	1.000
1:109064602:C:A	R99M	1.000
1:109064602:C:G	R99T	1.000
1:109064603:T:A	R99W	1.000
1:109064603:T:C	R99G	1.000
1:109064626:C:G	R91P	1.000
1:109064634:G:C	F88L	1.000
1:109064634:G:T	F88L	1.000
1:109064636:A:G	F88L	1.000

dbSNP variants (sampled 300 via entrez): RS1000070937 (1:109076050 C>A,G,T), RS1000108754 (1:109065688 C>A,G,T), RS1000121332 (1:109075839 G>C), RS1000458207 (1:109070684 G>A), RS1000658248 (1:109069457 AG>A), RS1000717767 (1:109074722 G>A), RS1000903563 (1:109066620 G>A), RS1001112019 (1:109071813 G>A,C), RS1001212537 (1:109074508 C>T), RS1001267772 (1:109072659 G>A), RS1001273619 (1:109076743 A>C), RS1001387053 (1:109077471 T>C), RS1001481597 (1:109077151 A>G), RS1001579250 (1:109077141 G>A,C), RS1001745808 (1:109066702 CTTTT>C,CT,CTT,CTTT,CTTTTT)

Disease associations

OMIM: gene MIM:600774 | disease phenotypes: MIM:617432, MIM:251200

GenCC curated gene-disease

Disease	Classification	Inheritance
intellectual disability, autosomal recessive 60	Strong	Autosomal recessive
autosomal recessive primary microcephaly	Supportive	Autosomal recessive

Mondo (2): intellectual disability, autosomal recessive 60 (MONDO:0044313), autosomal recessive primary microcephaly (MONDO:0016660)

Orphanet (1): Autosomal recessive primary microcephaly (Orphanet:2512)

HPO phenotypes

24 total (24 of 24 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000076	Vesicoureteral reflux
HP:0000122	Unilateral renal agenesis
HP:0000219	Thin upper lip vermilion
HP:0000252	Microcephaly
HP:0000340	Sloping forehead
HP:0000582	Upslanted palpebral fissure
HP:0000823	Delayed puberty
HP:0001256	Mild intellectual disability
HP:0001263	Global developmental delay
HP:0001274	Agenesis of corpus callosum
HP:0001302	Pachygyria
HP:0001347	Hyperreflexia
HP:0001510	Growth delay
HP:0001518	Small for gestational age
HP:0002119	Ventriculomegaly
HP:0002188	Delayed CNS myelination
HP:0002282	Gray matter heterotopia
HP:0002750	Delayed skeletal maturation
HP:0003103	Abnormal cortical bone morphology
HP:0003593	Infantile onset
HP:0004322	Short stature
HP:0007333	Hypoplasia of the frontal lobes
HP:0010864	Severe intellectual disability

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C579935	Autosomal Recessive Primary Microcephaly (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

47 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases expression	4
bisphenol A	affects expression, decreases expression, affects cotreatment, increases expression	3
sodium arsenite	affects cotreatment, increases abundance, increases expression	2
Copper	decreases expression, increases expression, affects binding	2
Estradiol	affects expression, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Tobacco Smoke Pollution	increases expression	2
Cyclosporine	increases expression	2
Particulate Matter	decreases expression, increases abundance	2
bisphenol F	affects cotreatment, increases expression	1
methylmercuric chloride	increases expression	1
triphenyl phosphate	affects expression	1
pirinixic acid	decreases expression, increases activity, affects binding	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
zinc chromate	increases abundance, increases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
aflatoxin B2	decreases methylation	1
cupric oxide	increases expression	1
avobenzone	increases expression	1
di-n-butylphosphoric acid	affects expression	1
chromium hexavalent ion	increases abundance, increases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
bisphenol S	increases expression, affects cotreatment	1
jinfukang	decreases expression	1
NSC 689534	increases expression, affects binding	1
MT19c compound	increases expression	1
Air Pollutants	decreases expression, increases abundance	1

Cellosaurus cell lines

3 cell lines: 3 embryonic stem cell

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_A6X8	SEES3-1V human TAF13, clone1	Embryonic stem cell	Male
CVCL_A6X9	SEES3-1V human TAF13, clone2	Embryonic stem cell	Male
CVCL_A6Y0	SEES3-1V human TAF13, clone3	Embryonic stem cell	Male

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.