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IMPACT

gene
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Also known as RWDD5

Summary

IMPACT (impact RWD domain protein, HGNC:20387) is a protein-coding gene on chromosome 18q11.2, encoding Protein IMPACT (Q9P2X3). Translational regulator that ensures constant high levels of translation upon a variety of stress conditions, such as amino acid starvation, UV-C irradiation, proteasome inhibitor treatment and glucose deprivation.

Predicted to enable protein sequestering activity. Predicted to be involved in several processes, including GCN2-mediated signaling; cellular response to amino acid starvation; and regulation of gene expression. Predicted to act upstream of or within negative regulation of protein phosphorylation. Predicted to be active in cytoplasm.

Source: NCBI Gene 55364 — RefSeq curated summary.

At a glance

  • Clinical variants (ClinVar): 31 total
  • MANE Select transcript: NM_018439

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:20387
Approved symbolIMPACT
Nameimpact RWD domain protein
Location18q11.2
Locus typegene with protein product
StatusApproved
AliasesRWDD5
Ensembl geneENSG00000154059
Ensembl biotypeprotein_coding
OMIM615319
Entrez55364

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 10 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000284202, ENST00000578221, ENST00000580035, ENST00000580706, ENST00000581278, ENST00000585067, ENST00000648078, ENST00000896352, ENST00000896353, ENST00000896354, ENST00000896355, ENST00000936943

RefSeq mRNA: 1 — MANE Select: NM_018439 NM_018439

CCDS: CCDS11886

Canonical transcript exons

ENST00000284202 — 11 exons

ExonStartEnd
ENSE000012378912445077924453531
ENSE000012379002442667024426792
ENSE000034885862444981924449953
ENSE000035075382444049624440618
ENSE000035220782444809324448183
ENSE000035470332442791924428047
ENSE000035500062444539324445466
ENSE000035754072443795524438040
ENSE000036689362442886924428921
ENSE000036816692443032224430384
ENSE000037895522444304924443152

Expression profiles

Bgee: expression breadth ubiquitous, 277 present calls, max score 95.04.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.7460 / max 138.9342, expressed in 1755 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter IDTPM avgSamples expressed
16974213.52881743
1697419.51241702
1697400.7048371

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
calcaneal tendonUBERON:000370195.04gold quality
adrenal tissueUBERON:001830391.43gold quality
ventricular zoneUBERON:000305391.29gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099191.00gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047389.05gold quality
islet of LangerhansUBERON:000000688.98gold quality
monocyteCL:000057688.66gold quality
mononuclear cellCL:000084288.30gold quality
stromal cell of endometriumCL:000225588.00gold quality
leukocyteCL:000073887.79gold quality
C1 segment of cervical spinal cordUBERON:000646986.58gold quality
ganglionic eminenceUBERON:000402386.51gold quality
rectumUBERON:000105286.23gold quality
tibiaUBERON:000097986.15gold quality
left adrenal glandUBERON:000123486.10gold quality
left adrenal gland cortexUBERON:003582586.10gold quality
right adrenal gland cortexUBERON:003582785.88gold quality
hypothalamusUBERON:000189885.84gold quality
endothelial cellCL:000011585.80gold quality
right adrenal glandUBERON:000123385.72gold quality
germinal epithelium of ovaryUBERON:000130485.70gold quality
olfactory segment of nasal mucosaUBERON:000538685.64gold quality
adrenal glandUBERON:000236985.62gold quality
palpebral conjunctivaUBERON:000181285.34gold quality
epithelium of nasopharynxUBERON:000195185.13gold quality
nasopharynxUBERON:000172885.12gold quality
eyeUBERON:000097084.70gold quality
popliteal arteryUBERON:000225084.63gold quality
tibial arteryUBERON:000761084.63gold quality
testisUBERON:000047384.55gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3yes4.96
E-MTAB-6058no305.08

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MYC

miRNA regulators (miRDB)

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

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-3163100.0077.238605
HSA-MIR-5692A100.0074.406850
HSA-MIR-5011-5P100.0083.465820
HSA-LET-7A-3P100.0074.033932
HSA-LET-7B-3P100.0074.083913
HSA-LET-7F-1-3P100.0074.023928
HSA-MIR-98-3P100.0074.083907
HSA-MIR-5692B100.0071.322622
HSA-MIR-5692C100.0071.322622
HSA-MIR-4673100.0066.641490
HSA-MIR-7110-3P100.0073.182486
HSA-MIR-190A-3P100.0080.355520
HSA-MIR-513B-5P99.9969.962150
HSA-MIR-150-5P99.9966.691976
HSA-MIR-366299.9973.825684
HSA-MIR-453199.9969.703181
HSA-MIR-428299.9975.366408
HSA-MIR-569699.9872.364487
HSA-MIR-1213699.9872.815713
HSA-MIR-477599.9875.006394
HSA-MIR-4645-5P99.9865.811284
HSA-MIR-3688-3P99.9772.022834
HSA-MIR-548AN99.9770.912817
HSA-MIR-314899.9775.066478
HSA-MIR-60799.9773.625593
HSA-MIR-568899.9673.234504
HSA-MIR-495-3P99.9672.814197
HSA-MIR-4666A-3P99.9671.713434
HSA-MIR-590-3P99.9674.346478
HSA-MIR-144-3P99.9473.982698

Literature-anchored findings (GeneRIF, showing 3)

  • It thus seems that lineage-specific enhancement of gene expression rather than the tandem repeat per se played a critical role in the evolution of imprinting of Impact. (PMID:15752730)
  • segmental duplication followed by enhancement of the promoter activity is responsible for the species-specific imprinting of Impact (PMID:15871461)
  • Data suggest that high expression of protein IMPACT homolog in non-immune cells acts as a protective mechanism against indoleamine 2,3-dioxygenase (IDO)-induced GCN2 activation, making them resistant to the amino acid-deprived environment caused by IDO. (PMID:20648630)

Cross-species orthologs

4 orthologs

OrganismSymbolGene ID
danio_rerioimpactENSDARG00000043288
mus_musculusImpactENSMUSG00000024423
rattus_norvegicusImpactENSRNOG00000045844
caenorhabditis_elegansimpt-1WBGENE00013122

Protein

Protein identifiers

Protein IMPACT — Q9P2X3 (reviewed: Q9P2X3)

Alternative names: Imprinted and ancient gene protein homolog

All UniProt accessions (6): Q9P2X3, A0A3B3ITH3, J3KT25, J3QLU6, J3QQU0, J3QRS6

UniProt curated annotations — full annotation on UniProt →

Function. Translational regulator that ensures constant high levels of translation upon a variety of stress conditions, such as amino acid starvation, UV-C irradiation, proteasome inhibitor treatment and glucose deprivation. Plays a role as a negative regulator of the EIF2AK4/GCN2 kinase activity; impairs GCN1-mediated EIF2AK4/GCN2 activation, and hence EIF2AK4/GCN2-mediated eIF-2-alpha phosphorylation and subsequent down-regulation of protein synthesis. May be required to regulate translation in specific neuronal cells under amino acid starvation conditions by preventing GCN2 activation and therefore ATF4 synthesis. Through its inhibitory action on EIF2AK4/GCN2, plays a role in differentiation of neuronal cells by stimulating neurite outgrowth.

Subunit / interactions. Interacts with GCN1; prevents the interaction of GCN1 with EIF2AK4/GCN2 and inhibits EIF2AK4/GCN2 kinase activity. Interaction with RPL39; this interaction occurs in a GCN1-independent manner. Associates with ribosomes; this interaction occurs in a GCN1-independent manner. Associates with actin; this interaction occurs in a GCN1-independent manner.

Subcellular location. Cytoplasm.

Tissue specificity. Widely expressed. Expressed at high level in brain.

Miscellaneous. In contrast to the mouse or rabbit ortholog, the IMPACT locus is not imprinted in human.

Similarity. Belongs to the IMPACT family.

Isoforms (2)

UniProt IDNamesCanonical?
Q9P2X3-11yes
Q9P2X3-22

RefSeq proteins (1): NP_060909* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR001498Impact_NDomain
IPR006575RWD_domDomain
IPR016135UBQ-conjugating_enzyme/RWDHomologous_superfamily
IPR020568Ribosomal_Su5_D2-typ_SFHomologous_superfamily
IPR020569UPF0029_Impact_CSConserved_site
IPR023582ImpactFamily
IPR036956Impact_N_sfHomologous_superfamily

Pfam: PF01205, PF05773

UniProt features (9 total): sequence variant 3, chain 1, domain 1, region of interest 1, compositionally biased region 1, modified residue 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9P2X3-F180.560.61

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 297

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

IDPathway
R-HSA-9633012Response of EIF2AK4 (GCN2) to amino acid deficiency
R-HSA-2262752Cellular responses to stress
R-HSA-8953897Cellular responses to stimuli
R-HSA-9711097Cellular response to starvation

MSigDB gene sets: 233 (showing top): GOBP_CYTOPLASMIC_TRANSLATION, GOBP_REGULATION_OF_TRANSLATION_IN_RESPONSE_TO_STRESS, GOBP_NEURON_PROJECTION_EXTENSION, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_POSITIVE_REGULATION_OF_NEURON_DIFFERENTIATION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_GROWTH, GOBP_TRANSLATIONAL_INITIATION, GOBP_NEUROGENESIS, RODWELL_AGING_KIDNEY_NO_BLOOD_DN, GOBP_TRANSLATION, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, MARTINEZ_RB1_TARGETS_DN, GOBP_REGULATION_OF_NEURON_DIFFERENTIATION

GO Biological Process (11): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of translational initiation (GO:0006446), cellular response to amino acid starvation (GO:0034198), intracellular signal transduction (GO:0035556), positive regulation of neuron differentiation (GO:0045666), GCN2-mediated signaling (GO:0140469), neuron projection extension (GO:1990138), regulation of cytoplasmic translational initiation in response to stress (GO:1990611), regulation of translation (GO:0006417), nervous system development (GO:0007399), cell differentiation (GO:0030154)

GO Molecular Function (4): actin binding (GO:0003779), ribosome binding (GO:0043022), protein sequestering activity (GO:0140311), protein binding (GO:0005515)

GO Cellular Component (1): cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-3 pathways:

CategoryPathways
Cellular response to starvation1
Cellular responses to stimuli1
Cellular responses to stress1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
intracellular anatomical structure2
regulation of transcription by RNA polymerase II1
transcription by RNA polymerase II1
negative regulation of DNA-templated transcription1
translational initiation1
regulation of translation1
cellular response to starvation1
response to amino acid starvation1
signal transduction1
neuron differentiation1
positive regulation of cell differentiation1
regulation of neuron differentiation1
integrated stress response signaling1
developmental cell growth1
neuron projection morphogenesis1
developmental growth involved in morphogenesis1
cytoplasmic translational initiation1
cellular response to stress1
regulation of translational initiation in response to stress1
regulation of cytoplasmic translational initiation1
regulation of cytoplasmic translation in response to stress1
translation1
post-transcriptional regulation of gene expression1
regulation of protein metabolic process1
system development1
cellular developmental process1
cytoskeletal protein binding1
ribonucleoprotein complex binding1
protein binding1
molecular sequestering activity1
binding1
cellular anatomical structure1

Protein interactions and networks

STRING

700 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
IMPACTGCN1Q92616535
IMPACTEIF2AK4Q9P2K8529
IMPACTFBXO28Q9NVF7489
IMPACTRWDD1Q9H446352
IMPACTATXN2LQ8WWM7347
IMPACTATXN2Q99700347
IMPACTKARS1Q15046299
IMPACTGGA2Q9UJY4289
IMPACTFRYLO94915286
IMPACTRWDD4Q6NW29284
IMPACTIMPA2O14732280
IMPACTIMPA1P29218280
IMPACTABCF3Q9NUQ8278
IMPACTGGA3Q9NZ52268
IMPACTHRH4Q9H3N8267

IntAct

47 interactions, top by confidence:

ABTypeScore
CA10WDHD1psi-mi:“MI:0914”(association)0.640
HRGPLSCR1psi-mi:“MI:0914”(association)0.590
SERPINF1IMPACTpsi-mi:“MI:0915”(physical association)0.560
PSMB1IMPACTpsi-mi:“MI:0915”(physical association)0.560
RRP8MAGEB2psi-mi:“MI:0914”(association)0.530
IMPACTCRHBPpsi-mi:“MI:0915”(physical association)0.400
Shoc2GABPB1psi-mi:“MI:0914”(association)0.350
Dync1li1SSR3psi-mi:“MI:0914”(association)0.350
Bub1PEX10psi-mi:“MI:0914”(association)0.350
Bub1bASAH1psi-mi:“MI:0914”(association)0.350
Naa10MYO9Apsi-mi:“MI:0914”(association)0.350
CDC73SCAMP3psi-mi:“MI:0914”(association)0.350
SGO1ELOCpsi-mi:“MI:0914”(association)0.350
LLGL2RBBP6psi-mi:“MI:0914”(association)0.350
Pafah1b1ATXN3psi-mi:“MI:0914”(association)0.350
Poc1aSQSTM1psi-mi:“MI:0914”(association)0.350
KIF20BACSL3psi-mi:“MI:0914”(association)0.350
KIF7TBC1D31psi-mi:“MI:0914”(association)0.350
Hnrnpa3MATR3psi-mi:“MI:0914”(association)0.350
CRKLSOS1psi-mi:“MI:0914”(association)0.350
ETS2ANKS6psi-mi:“MI:0914”(association)0.350
Vps4bCNOT1psi-mi:“MI:0914”(association)0.350
Chmp6NSFpsi-mi:“MI:0914”(association)0.350
REEP5CNOT1psi-mi:“MI:0914”(association)0.350
BTBD8HSPA8psi-mi:“MI:0914”(association)0.350
FANCIFAAP20psi-mi:“MI:0914”(association)0.350

BioGRID (52): IMPACT (Biochemical Activity), IMPACT (Affinity Capture-MS), IMPACT (Affinity Capture-MS), IMPACT (Affinity Capture-MS), IMPACT (Affinity Capture-MS), IMPACT (Affinity Capture-MS), IMPACT (Affinity Capture-MS), IMPACT (Affinity Capture-MS), IMPACT (Affinity Capture-MS), IMPACT (Affinity Capture-MS), IMPACT (Affinity Capture-MS), IMPACT (Affinity Capture-MS), IMPACT (Affinity Capture-MS), IMPACT (Affinity Capture-MS), IMPACT (Affinity Capture-MS)

ESM2 similar proteins: A1A5G2, A6H7H7, A7YY45, A9UMG5, E1C3P4, O55091, O55236, O60942, P49754, P54731, P69341, Q08J23, Q14457, Q149N8, Q15650, Q1RMU2, Q28GH3, Q4A1L3, Q569B7, Q5GFD8, Q5GFD9, Q5M8G6, Q5R878, Q5RED8, Q5U252, Q5ZKY2, Q5ZLV4, Q642J4, Q66H62, Q6GP52, Q6GR37, Q6NY98, Q80TQ2, Q8QFR2, Q90ZA1, Q91XL9, Q96DT6, Q9BXW6, Q9CPR1, Q9ESL4

Diamond homologs: A7YY45, A9UMG5, F1RB95, O13997, O55091, O60090, P25637, P32437, P32438, Q12257, Q54JW9, Q5GFD8, Q5GFD9, Q5M8G6, Q642J4, Q9P2X3, Q9W625, Q9XWF4, Q9UBS8, Q9JI90, P27862, P44842

SIGNOR signaling

1 interactions.

AEffectBMechanism
SMURF1unknownIMPACTubiquitination

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance17
Likely benign0
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2182 predictions. Top by Δscore:

VariantEffectΔscore
18:24427913:TTTCA:Tacceptor_loss1.0000
18:24427914:TTCA:Tacceptor_loss1.0000
18:24427916:CAGA:Cacceptor_loss1.0000
18:24427917:A:AGacceptor_gain1.0000
18:24427918:G:GAacceptor_gain1.0000
18:24427918:GA:Gacceptor_gain1.0000
18:24427918:GAA:Gacceptor_gain1.0000
18:24427918:GAAT:Gacceptor_gain1.0000
18:24428047:GG:Gdonor_loss1.0000
18:24428922:G:GGdonor_gain1.0000
18:24430320:A:AGacceptor_gain1.0000
18:24430321:G:GGacceptor_gain1.0000
18:24430321:GT:Gacceptor_gain1.0000
18:24430385:G:GGdonor_gain1.0000
18:24437953:A:AGacceptor_gain1.0000
18:24437954:G:GAacceptor_gain1.0000
18:24437954:GTCA:Gacceptor_gain1.0000
18:24440491:C:Gacceptor_gain1.0000
18:24440492:A:AGacceptor_gain1.0000
18:24440492:ATAG:Aacceptor_gain1.0000
18:24440493:T:Gacceptor_gain1.0000
18:24440494:A:AGacceptor_gain1.0000
18:24440494:A:Tacceptor_loss1.0000
18:24440495:G:GTacceptor_gain1.0000
18:24440495:GGC:Gacceptor_gain1.0000
18:24440495:GGCCC:Gacceptor_gain1.0000
18:24440571:A:Tdonor_gain1.0000
18:24440614:GACAG:Gdonor_gain1.0000
18:24440618:GG:Gdonor_loss1.0000
18:24440619:G:Cdonor_loss1.0000

AlphaMissense

2140 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
18:24428906:C:AP68H1.000
18:24443108:A:CS184R1.000
18:24443110:T:AS184R1.000
18:24443110:T:GS184R1.000
18:24445442:C:AA215D1.000
18:24448155:C:AA244D1.000
18:24449858:T:AW267R1.000
18:24449858:T:CW267R1.000
18:24449865:G:AG269E1.000
18:24449891:T:CF278L1.000
18:24449893:T:AF278L1.000
18:24449893:T:GF278L1.000
18:24427943:G:CA21P0.999
18:24427961:T:AW27R0.999
18:24427961:T:CW27R0.999
18:24428887:T:CY62H0.999
18:24428888:A:GY62C0.999
18:24428906:C:GP68R0.999
18:24437986:T:AW105R0.999
18:24437986:T:CW105R0.999
18:24443103:G:CR182P0.999
18:24443114:T:CF186L0.999
18:24443115:T:CF186S0.999
18:24443116:T:AF186L0.999
18:24443116:T:GF186L0.999
18:24445447:C:GH217D0.999
18:24445460:C:AA221D0.999
18:24448158:G:AG245D0.999
18:24448167:T:CL248P0.999
18:24448170:T:CL249P0.999

dbSNP variants (sampled 300 via entrez): RS1000049170 (18:24450655 A>G), RS1000055527 (18:24431950 C>T), RS1000106015 (18:24449117 T>C), RS1000152760 (18:24436881 A>G), RS1000259593 (18:24443217 A>G), RS1000269298 (18:24425089 T>A,C), RS1000282848 (18:24430047 G>T), RS1000357517 (18:24437274 A>G), RS1000402162 (18:24450349 G>A), RS1000421061 (18:24430264 A>G), RS1000630191 (18:24441654 A>G), RS1000636734 (18:24426484 C>A,G,T), RS1000698220 (18:24442918 A>G), RS1000703374 (18:24425310 C>G,T), RS1000756701 (18:24447723 G>A)

Disease associations

OMIM: gene MIM:615319 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

ChemicalActions (top 5)PubMed papers
sodium arsenitedecreases expression, affects cotreatment, increases abundance, increases expression2
Tetrachlorodibenzodioxindecreases expression2
Valproic Acidincreases expression2
aristolochic acid Idecreases expression1
GSK-J4decreases expression1
methylmercuric chloridedecreases expression1
triphenyl phosphateaffects expression1
arseniteincreases reaction, affects binding1
manganese chlorideaffects cotreatment, increases abundance, increases expression1
di-n-butylphosphoric acidaffects expression1
CGP 52608increases reaction, affects binding1
2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidineincreases response to substance, increases expression1
Resveratrolaffects cotreatment, increases expression1
Sunitinibdecreases expression1
Fulvestrantincreases methylation1
Acetaminophendecreases expression1
Air Pollutantsdecreases expression, increases abundance1
Arsenicaffects cotreatment, increases abundance, increases expression1
Benzo(a)pyreneincreases methylation1
Cadmiumincreases expression1
Manganeseaffects cotreatment, increases abundance, increases expression1
Plant Extractsaffects cotreatment, increases expression1
Smokedecreases expression1
Thiramdecreases expression1
Tretinoindecreases expression1
Cyclosporineincreases expression1
Okadaic Aciddecreases expression1
Particulate Matterdecreases expression, increases abundance1

Clinical trials (associated diseases)

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

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.4
BioBTree
v2.0.2

Sources 75

This page pulls from 75 datasets indexed by BioBTree:

alphafoldalphamissenseantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticsccdscellosauruschembl_activitychembl_targetciviccivic_evidenceclingen_dosageclingen_gene_validityclinical_trialsclinvarcollectrictd_gene_interactiondbsnpdepmapdiamond_similarityefoensemblentrezesm2_similarityexonfantom5_genefantom5_promotergenccgenerifgogoparentgtopdbgwasgwas_studyhgnchpointactinterprointogenjasparmeshmimmirdbmondomsigdborphanetorthologparalogpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assaypubmedreactomereactomeparentrefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorspliceaistring_interactiontranscriptufeatureuniprot