AiPD: Autoinhibited Protein Database

O95076

Gene name	ALX3
Protein name	Homeobox protein aristaless-like 3
Names	Proline-rich transcription factor ALX3
Species	Homo sapiens (Human)
KEGG Pathway	hsa:257
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

98-174 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

98-174 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

1 structures for O95076

Entry ID	Method	Resolution	Chain	Position	Source
AF-O95076-F1	Predicted				AlphaFoldDB

300 variants for O95076

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000004907 CA116981 rs121908167 VAR_063226	168	L>V	Frontorhiny FND1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
RCV000004909 rs121908169 CA116983	181	Y>*	Frontorhiny [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
VAR_063227 RCV000004908 rs121908168 CA116982	183	R>W	Frontorhiny Variant assessed as Somatic; 4.621e-05 impact. FND1 [ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000004910 rs387906319	193	T>missing	Frontorhiny [ClinVar]	Yes	ClinVar dbSNP
VAR_063228 RCV000004911 CA116986 rs121908170	196	R>W	Frontorhiny FND1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC dbSNP gnomAD
VAR_063229 rs121908166 RCV000004906 CA116980	203	N>S	Frontorhiny FND1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000677633 rs1553196068	246	L>missing	Frontorhiny [ClinVar]	Yes	ClinVar dbSNP
CA341588124 rs1418403036	2	D>E		No	ClinGen TOPMed
rs1179137128 CA341588051	6	C>W		No	ClinGen TOPMed
CA341588040 rs1309475385	7	A>E		No	ClinGen TOPMed gnomAD
CA28746533 rs975514659	7	A>T		No	ClinGen TOPMed gnomAD
CA341588036 rs1309475385	7	A>V		No	ClinGen TOPMed gnomAD
CA341587961 rs1471219733	12	G>E		No	ClinGen gnomAD
CA341587966 rs1334792590 CA341587968	12	G>R		No	ClinGen TOPMed gnomAD
CA28746529 rs964012645	13	P>L		No	ClinGen TOPMed
rs1303766758 CA341587901	16	G>C		No	ClinGen TOPMed
rs1570941108 CA341587886	17	P>S		No	ClinGen Ensembl
CA341587865 rs1361700069	18	Y>C		No	ClinGen TOPMed gnomAD
CA341587867 rs1361700069	18	Y>F		No	ClinGen TOPMed gnomAD
rs1183613164 CA341587846	19	V>A		No	ClinGen gnomAD
CA341587805 rs1331393213	22	G>R		No	ClinGen TOPMed
CA341587781 rs1351190932	23	D>E		No	ClinGen TOPMed
rs1300395938 CA341587775	24	E>K		No	ClinGen TOPMed gnomAD
CA28746508 rs1020856559	28	P>L		No	ClinGen TOPMed
CA341587712 rs1020856559	28	P>R		No	ClinGen TOPMed
rs1256366776 CA341587718	28	P>S		No	ClinGen TOPMed
rs1256366776 CA341587723	28	P>T		No	ClinGen TOPMed
CA28746486 rs893323237	31	T>S		No	ClinGen TOPMed gnomAD
rs1198010210 CA341587655	32	P>R		No	ClinGen TOPMed
rs1434513928 CA341587637	35	A>E		No	ClinGen TOPMed
CA341587633 rs1384782742	36	P>S		No	ClinGen TOPMed gnomAD
rs1348399808 CA341587622	37	H>Q		No	ClinGen TOPMed
rs1460726387 CA341587607	40	P>A		No	ClinGen TOPMed
TCGA novel	41	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341587585 rs1557804896	43	P>L		No	ClinGen Ensembl
rs1371658245 CA341587588	43	P>S		No	ClinGen TOPMed
rs774644842 CA997667	46	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1301333738 CA341587563	47	R>Q		No	ClinGen TOPMed
CA997666 rs769009378	48	L>R		No	ClinGen ExAC gnomAD
rs1001916056 CA28746480	50	R>C		No	ClinGen TOPMed
rs375790592 CA997665	52	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs775462465 CA997664	54	C>S		No	ClinGen ExAC TOPMed gnomAD
CA997662 rs757496737	56	P>S		No	ClinGen ExAC TOPMed gnomAD
rs757496737 CA997663	56	P>T		No	ClinGen ExAC TOPMed gnomAD
CA341587508 rs1320547873	57	L>P		No	ClinGen gnomAD
CA997661 rs781525090	59	P>T		No	ClinGen ExAC gnomAD
rs771353213 CA997660	60	Y>C		No	ClinGen ExAC gnomAD
CA341587483 rs1219901152	61	L>H		No	ClinGen TOPMed gnomAD
rs372506798 CA997658	64	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA997657 rs754614088	65	A>T		No	ClinGen ExAC TOPMed gnomAD
rs931112658 CA28746428	65	A>V		No	ClinGen TOPMed gnomAD
CA997655 rs12756321	68	P>A		No	ClinGen ExAC gnomAD
rs12756321 CA341587442	68	P>S		No	ClinGen ExAC gnomAD
CA341587436 rs1424577146	69	A>S		No	ClinGen TOPMed
CA341587393 rs1570940968	75	L>F		No	ClinGen Ensembl
CA28746411 rs768518768 CA997652	76	G>R		No	ClinGen ExAC TOPMed gnomAD
CA341587379 rs1403701618	78	G>A		No	ClinGen gnomAD
CA997651 rs751418045	78	G>C		No	ClinGen ExAC TOPMed gnomAD
rs1403701618 CA341587378	78	G>D		No	ClinGen gnomAD
CA997649 rs751418045	78	G>R		No	ClinGen ExAC TOPMed gnomAD
rs751418045 CA997650	78	G>S		No	ClinGen ExAC TOPMed gnomAD
rs894251902 CA28746382	79	P>L		No	ClinGen TOPMed
rs894251902 CA341587372	79	P>R		No	ClinGen TOPMed
rs113980045 CA28746378	80	A>P		No	ClinGen Ensembl
CA28746372 rs1034525185	81	L>I		No	ClinGen TOPMed
rs764336621 CA341587343	82	N>K		No	ClinGen ExAC TOPMed gnomAD
rs763124335 CA997647	83	G>R		No	ClinGen ExAC TOPMed gnomAD
CA341587312 rs1353007739	85	H>L		No	ClinGen gnomAD
rs842021 CA28746351	86	F>L		No	ClinGen Ensembl
CA997646 rs775617106	87	Y>*		No	ClinGen ExAC gnomAD
CA28746329 rs1036273636	88	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs765289566 CA997645	89	G>S		No	ClinGen ExAC gnomAD
rs760085972 CA341587245	90	P>A		No	ClinGen ExAC TOPMed gnomAD
CA997644 rs760085972	90	P>T		No	ClinGen ExAC TOPMed gnomAD
CA341587221 rs1182288660	91	A>V		No	ClinGen TOPMed
CA28739919 rs921537760	94	E>K		No	ClinGen Ensembl
CA997627 rs765502729	95	E>K		No	ClinGen ExAC TOPMed gnomAD
CA341586056 rs765502729	95	E>Q		No	ClinGen ExAC TOPMed gnomAD
RCV000994065 rs767308041	96	K>missing		No	ClinVar dbSNP
rs1243868299 CA341586034	96	K>T		No	ClinGen TOPMed
CA341586013 rs1557803044	97	T>I		No	ClinGen Ensembl
CA341586021 rs1570938258	97	T>P		No	ClinGen Ensembl
rs1232577650 CA341586011	98	S>A		No	ClinGen gnomAD
rs759554226 CA341586007	98	S>C		No	ClinGen ExAC gnomAD
rs759554226 CA997624	98	S>F		No	ClinGen ExAC gnomAD
rs975515598 CA341585975	100	A>D		No	ClinGen gnomAD
CA28739867 rs975515598	100	A>G		No	ClinGen gnomAD
rs1570938239 CA341585959	101	A>V		No	ClinGen Ensembl
rs759127084	105	Q>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1557803024 CA341585832	109	D>A		No	ClinGen Ensembl
CA341585817 rs1367826631	110	C>G		No	ClinGen gnomAD
rs772380963 CA997619	111	R>P		No	ClinGen ExAC TOPMed gnomAD
CA997618 rs772380963	111	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA28739820 rs550218304	112	G>R		No	ClinGen gnomAD
CA997616 rs774944899	113	G>A		No	ClinGen ExAC gnomAD
rs748547900 CA997617	113	G>S		No	ClinGen ExAC gnomAD
TCGA novel	114	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA997615 rs769505099	115	R>K		No	ClinGen ExAC gnomAD
CA341585725 CA341585724 rs146795178	116	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs373683008 CA28739773	116	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
CA997614 rs372198014	116	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA997613 rs372198014	116	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA28739762 rs138645472	117	G>R		No	ClinGen 1000Genomes TOPMed gnomAD
CA997611 rs746998409	118	P>S		No	ClinGen ExAC gnomAD
CA341585664 rs1175764444	120	N>D		No	ClinGen gnomAD
CA997609 rs758063471	122	Q>H		No	ClinGen ExAC gnomAD
rs111275942 CA28739754	122	Q>R		No	ClinGen Ensembl
CA341585609 rs1183085942	123	G>V		No	ClinGen gnomAD
CA341585593 rs1262945344	124	S>F		No	ClinGen Ensembl
rs1265580905 CA341585588	125	P>S		No	ClinGen gnomAD
CA28739752 rs1021734981	127	P>T		No	ClinGen TOPMed
rs1011257958 CA28739717	128	C>G		No	ClinGen TOPMed gnomAD
rs1011257958 CA28739746	128	C>S		No	ClinGen TOPMed gnomAD
CA341585538 rs1274651169	128	C>Y		No	ClinGen TOPMed
rs1282612228 CA341585519	129	L>R		No	ClinGen gnomAD
CA28739714 rs139794205	129	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs75373920 CA997606	130	A>P		No	ClinGen ExAC gnomAD
rs766497153 TCGA novel CA997603	131	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC gnomAD
TCGA novel	132	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761160635 CA997602	133	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1380450002 CA341585455	134	L>F		No	ClinGen gnomAD
rs750826128 CA997601	135	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs907064240 CA28739692	137	S>A		No	ClinGen TOPMed
CA997600 rs768080424	138	P>L		No	ClinGen ExAC TOPMed gnomAD
CA341585396 rs768080424	138	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA997598 rs199713385	139	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA341585388 rs1156677151	139	G>R		No	ClinGen gnomAD
rs940123816 CA28739674	142	D>A		No	ClinGen gnomAD
CA997597 rs769539181	143	S>A		No	ClinGen ExAC
rs759311249 CA997596	143	S>Y		No	ClinGen ExAC
CA341585290 rs1198379411	144	M>I		No	ClinGen TOPMed
rs368492786 CA997595	144	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA997594 rs200156688	146	L>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs746523989 CA997593	147	A>V		No	ClinGen ExAC gnomAD
rs1020677419 CA28739645	152	K>Q		No	ClinGen TOPMed
rs772069495 CA997590	153	K>R		No	ClinGen ExAC gnomAD
rs772069495 CA341585079	153	K>T		No	ClinGen ExAC gnomAD
CA28739644 rs535409677	154	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA
rs1286337278 CA341585055	154	R>H		No	ClinGen gnomAD
rs1286337278 CA341585057	154	R>P		No	ClinGen gnomAD
CA997589 rs746228217	155	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs975672419 CA28739638	155	R>H		No	ClinGen gnomAD
rs375422680 CA997587	157	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA997586 rs755174727	157	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1053677141 CA28739611	158	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs143366374 CA28739591	161	S>G		No	ClinGen ESP
CA28739569 rs201420718	163	F>S		No	ClinGen 1000Genomes
CA28739567 rs865785395	166	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA341584749 rs1469187660	167	E>K		No	ClinGen gnomAD
CA341584702 rs1284257489	169	E>Q		No	ClinGen TOPMed
rs767866679 CA28739525 CA997580	170	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1340121089 CA341584603	173	Q>E		No	ClinGen TOPMed
CA997579 rs762419542	174	K>E		No	ClinGen ExAC gnomAD
CA341584544 rs1209517534	175	T>I		No	ClinGen TOPMed
rs751847093 CA997578	176	H>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	180	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776355454 CA997577	183	R>L		No	ClinGen ExAC TOPMed gnomAD
rs776355454 CA997576	183	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs760056467 CA997574	189	R>C		No	ClinGen ExAC TOPMed gnomAD
CA997573 rs199983753	189	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1293427085 CA341584218	191	D>G		No	ClinGen gnomAD
CA28739449 rs1047196284	192	L>M		No	ClinGen TOPMed gnomAD
CA997572 rs771876784	194	E>D		No	ClinGen ExAC
rs1340833776 CA341584140	195	A>T		No	ClinGen gnomAD
rs112456669 CA28739405	196	R>L		No	ClinGen Ensembl
CA341582287 rs1226266345	200	W>S		No	ClinGen TOPMed
CA341582231 rs1199055481	204	R>C		No	ClinGen TOPMed gnomAD
CA997555 rs374651713	204	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA28737240 rs705279	205	R>K		No	ClinGen TOPMed
rs761654304 CA997554	206	A>V		No	ClinGen ExAC gnomAD
rs774210543 CA997553	207	K>R		No	ClinGen ExAC gnomAD
CA997550 rs775299987	209	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA997551 rs749039409	209	R>W		No	ClinGen ExAC TOPMed gnomAD
CA341582155 rs1411410627	210	K>R		No	ClinGen TOPMed
rs781127904 CA997547	211	R>C		No	ClinGen ExAC TOPMed gnomAD
CA997546 rs757293052	211	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs781127904 CA997548	211	R>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA997544 rs778377987	212	E>K		No	ClinGen ExAC gnomAD
rs759007659 CA997543	213	R>C		No	ClinGen ExAC TOPMed gnomAD
CA997542 rs150129126	213	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201764848 CA28737200	215	G>A		No	ClinGen 1000Genomes
rs1313405565 CA341582050	219	E>K		No	ClinGen TOPMed
CA341582031 rs1335385096	220	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs375503292 CA997540	221	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs765747640 CA997541	221	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs538430669 CA997538	222	N>I		No	ClinGen 1000Genomes ExAC gnomAD
rs538430669 CA341582011	222	N>T		No	ClinGen 1000Genomes ExAC gnomAD
rs370985645 CA28737169	222	N>Y		No	ClinGen ESP
CA997537 rs761334835	223	P>S		No	ClinGen ExAC
rs1159900506 CA341581969	225	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1570936392 CA341581978	225	T>P		No	ClinGen Ensembl
CA341581966 rs1570936382	226	A>P		No	ClinGen Ensembl
CA997534 rs140822231	226	A>V		No	ClinGen ESP ExAC gnomAD
CA997533 rs775250647	227	A>V		No	ClinGen ExAC gnomAD
CA997531 rs745653169	228	Y>C		No	ClinGen ExAC gnomAD
rs769697275 CA341581945	228	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs769697275 CA997532	228	Y>N		No	ClinGen ExAC TOPMed gnomAD
rs771081739 CA997529	229	D>G		No	ClinGen ExAC gnomAD
CA997528 rs199801560	230	I>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA997527 rs778041172	232	V>M		No	ClinGen ExAC TOPMed gnomAD
VAR_047475 CA28737114 rs12749726	234	P>A		No	ClinGen UniProt Ensembl dbSNP
rs145535704 CA997521	235	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA997522 rs145535704	235	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA997520 rs199753639	235	R>H		No	ClinGen ExAC TOPMed gnomAD
CA341581850 rs199753639	235	R>P		No	ClinGen ExAC TOPMed gnomAD
CA997519 rs751044375	237	D>H		No	ClinGen ExAC gnomAD
rs1382320668 CA341581813	238	S>N		No	ClinGen gnomAD
CA341581804 rs1299720353	239	H>Y		No	ClinGen TOPMed gnomAD
CA341581679 rs1452315698	243	Q>L		No	ClinGen gnomAD
rs1051095799 CA28736699	245	S>F		No	ClinGen Ensembl
TCGA novel	245	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769070620 CA997502	246	L>P		No	ClinGen ExAC gnomAD
RCV000193142 CA206424 RCV000966760 rs145995775	250	P>A		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA997499 rs751277589	250	P>L		No	ClinGen ExAC TOPMed gnomAD
rs145995775 CA997500	250	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1331109420 CA341581559	251	G>E		No	ClinGen gnomAD
rs777405716 CA997498	251	G>R		No	ClinGen ExAC gnomAD
CA997497 rs757845800	252	S>P		No	ClinGen ExAC gnomAD
rs1408091351 CA341581546	252	S>Y		No	ClinGen gnomAD
CA341581523 rs1402434565	254	S>N		No	ClinGen TOPMed gnomAD
CA997496 rs752170553	254	S>R		No	ClinGen ExAC gnomAD
rs958377466 CA28736663	258	P>A		No	ClinGen TOPMed
TCGA novel	258	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341581435 rs1427445118	259	C>R		No	ClinGen gnomAD
rs535807605 CA997495	261	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1348561420 CA341581358	263	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA341581301 rs1204331938	265	G>D		No	ClinGen TOPMed
CA997494 rs759432791	267	P>T		No	ClinGen ExAC gnomAD
rs753646963 CA997493	268	S>F		No	ClinGen ExAC gnomAD
CA997492 rs766147329	269	P>R		No	ClinGen ExAC gnomAD
CA341581226 rs760977295	270	C>G		No	ClinGen ExAC TOPMed gnomAD
rs760977295 CA997491	270	C>R		No	ClinGen ExAC TOPMed gnomAD
rs1043530442 CA28736620	271	M>I		No	ClinGen TOPMed
CA341581198 rs1570935942	271	M>T		No	ClinGen Ensembl
CA997490 rs773504281	274	Y>N		No	ClinGen ExAC gnomAD
rs1570935931 CA341581095	276	H>P		No	ClinGen Ensembl
CA997489 rs772440892	276	H>Q		No	ClinGen ExAC gnomAD
rs189671232 CA997488	277	P>T		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	278	H>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341581057 rs1332023787	278	H>P		No	ClinGen gnomAD
CA997486 rs769180172	278	H>Q		No	ClinGen ExAC gnomAD
CA341581042 rs1403546626	279	G>R		No	ClinGen gnomAD
rs947709896 CA341581006	280	S>R		No	ClinGen gnomAD
CA28736577 rs916276341	281	V>A		No	ClinGen Ensembl
rs775915786 CA997484	282	A>P		No	ClinGen ExAC gnomAD
CA341580961 rs1396050113	283	G>D		No	ClinGen TOPMed
rs992246631 CA28736566	283	G>S		No	ClinGen Ensembl
rs1449456071 CA341580950	284	F>V		No	ClinGen TOPMed
rs770075558 CA997483	285	M>I		No	ClinGen ExAC gnomAD
CA341580924 rs1156864404	285	M>T		No	ClinGen gnomAD
CA341580901 rs1239309424	286	G>A		No	ClinGen TOPMed gnomAD
CA341580904 rs1239309424	286	G>E		No	ClinGen TOPMed gnomAD
CA997482 rs746242886	287	V>G		No	ClinGen ExAC gnomAD
rs866030551 CA28736547	288	P>S		No	ClinGen Ensembl
CA28736535 rs372079233	290	P>R		No	ClinGen gnomAD
CA997480 rs145253023	292	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA341580781 rs1570935880	294	H>P		No	ClinGen Ensembl
rs1322920301 CA341580751	295	P>L		No	ClinGen TOPMed
CA28736519 rs962176008	296	G>D		No	ClinGen TOPMed gnomAD
rs1283200830 CA341580747	296	G>S		No	ClinGen gnomAD
rs778336298 CA997478	298	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs1443348208 CA341580717	298	Y>H		No	ClinGen TOPMed
rs1570935864 CA341580710	298	Y>S		No	ClinGen Ensembl
CA997477 rs754931220	301	H>R		No	ClinGen ExAC gnomAD
rs1227310293 CA341580579	305	P>S		No	ClinGen TOPMed
CA997473 rs755918125	306	T>A		No	ClinGen ExAC gnomAD
CA28736493 rs755918125	306	T>P		No	ClinGen ExAC gnomAD
CA341580541 rs1316578533	307	L>R		No	ClinGen gnomAD
rs767813698 CA997471	308	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA28736477 rs962550389	311	S>C		No	ClinGen Ensembl
CA341580492 rs1443298633	311	S>R		No	ClinGen gnomAD
CA997469 rs774474483	312	F>S		No	ClinGen ExAC gnomAD
rs1240732822 CA341580455	314	P>H		No	ClinGen gnomAD
CA341580454 rs1240732822	314	P>R		No	ClinGen gnomAD
rs760086926 CA28736454	314	P>S		No	ClinGen ExAC gnomAD
rs760086926 CA997467	314	P>T		No	ClinGen ExAC gnomAD
CA997466 rs551530170	318	G>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1336290376 CA341580389	319	D>G		No	ClinGen gnomAD
CA341580366 rs1314852475	320	Y>*		No	ClinGen gnomAD
rs376262878 CA997464	320	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA28736436 rs376262878	320	Y>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA28736417 rs1006327900	321	K>E		No	ClinGen Ensembl
CA341580311 rs1228665539	324	S>C		No	ClinGen gnomAD
rs373342900 CA997460	326	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA997461 rs747814890	326	V>I		No	ClinGen ExAC gnomAD
TCGA novel	327	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780095146 CA997457	329	R>S		No	ClinGen ExAC TOPMed gnomAD
CA997456 rs756156186	330	V>I		No	ClinGen ExAC TOPMed gnomAD
CA341580172 rs1162784148	331	K>N		No	ClinGen TOPMed
CA341580164 rs1415750729	332	P>S		No	ClinGen TOPMed
rs757495070 CA997453	333	K>E		No	ClinGen ExAC gnomAD
rs141042736 CA997452	333	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs369347396 CA997451	335	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs544533452 CA28736369	336	P>A		No	ClinGen Ensembl
CA997449 rs775577933	337	G>S		No	ClinGen ExAC TOPMed gnomAD
rs201913545 CA28736365	341	W>*		No	ClinGen 1000Genomes
TCGA novel	342	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765702189 CA997448	342	T>S		No	ClinGen ExAC TOPMed gnomAD
CA997447 rs776967754	343	T>K		No	ClinGen ExAC gnomAD
CA997446 rs776967754	343	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD

1 associated diseases with O95076

[MIM: 136760]: Frontonasal dysplasia 1 (FND1)

The term frontonasal dysplasia describes an array of abnormalities affecting the eyes, forehead and nose and linked to midfacial dysraphia. The clinical picture is highly variable. Major findings include true ocular hypertelorism; broadening of the nasal root; median facial cleft affecting the nose and/or upper lip and palate; unilateral or bilateral clefting of the alae nasi; lack of formation of the nasal tip; anterior cranium bifidum occultum; a V-shaped or widow's peak frontal hairline. {ECO:0000269|PubMed:19409524}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

The term frontonasal dysplasia describes an array of abnormalities affecting the eyes, forehead and nose and linked to midfacial dysraphia. The clinical picture is highly variable. Major findings include true ocular hypertelorism; broadening of the nasal root; median facial cleft affecting the nose and/or upper lip and palate; unilateral or bilateral clefting of the alae nasi; lack of formation of the nasal tip; anterior cranium bifidum occultum; a V-shaped or widow's peak frontal hairline. {ECO:0000269|PubMed:19409524}. Note=The disease is caused by variants affecting the gene represented in this entry.

2 regional properties for O95076

Type	Name	Position	InterPro Accession
domain	Homeobox domain	151 - 215	IPR001356
conserved_site	Homeobox, conserved site	186 - 209	IPR017970

Functions

		Description
EC Number
Subcellular Localization	Nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
chromatin	The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

3 GO annotations of molecular function

Name	Definition
DNA-binding transcription factor activity, RNA polymerase II-specific	A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II.
RNA polymerase II transcription regulatory region sequence-specific DNA binding	Binding to a specific sequence of DNA that is part of a regulatory region that controls the transcription of a gene or cistron by RNA polymerase II.
sequence-specific double-stranded DNA binding	Binding to double-stranded DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA, e.g. promotor binding or rDNA binding.

6 GO annotations of biological process

Name	Definition
embryonic cranial skeleton morphogenesis	The process in which the anatomical structures of the cranial skeleton are generated and organized during the embryonic phase.
embryonic forelimb morphogenesis	The process, occurring in the embryo, by which the anatomical structures of the forelimb are generated and organized. The forelimbs are the front limbs of an animal, e.g. the arms of a human.
embryonic hindlimb morphogenesis	The process, occurring in the embryo, by which the anatomical structures of the hindlimbs are generated and organized. The hindlimbs are the posterior limbs of an animal.
pattern specification process	Any developmental process that results in the creation of defined areas or spaces within an organism to which cells respond and eventually are instructed to differentiate.
regulation of apoptotic process	Any process that modulates the occurrence or rate of cell death by apoptotic process.
regulation of transcription by RNA polymerase II	Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.

27 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
A0JNI8	LHX9	LIM/homeobox protein Lhx9	Bos taurus (Bovine)	PR
Q90881	LHX9	LIM/homeobox protein Lhx9	Gallus gallus (Chicken)	PR
F1NEA7	DMBX1	Diencephalon/mesencephalon homeobox protein 1	Gallus gallus (Chicken)	PR
Q90963	PRRX2	Paired mesoderm homeobox protein 2	Gallus gallus (Chicken)	PR
Q8IRC7	Awh	LIM/homeobox protein Awh	Drosophila melanogaster (Fruit fly)	PR
Q9NQ69	LHX9	LIM/homeobox protein Lhx9	Homo sapiens (Human)	PR
Q99811	PRRX2	Paired mesoderm homeobox protein 2	Homo sapiens (Human)	PR
P50458	LHX2	LIM/homeobox protein Lhx2	Homo sapiens (Human)	PR
O15266	SHOX	Short stature homeobox protein	Homo sapiens (Human)	PR
Q8NHV9	RHOXF1	Rhox homeobox family member 1	Homo sapiens (Human)	PR
Q9BQY4	RHOXF2	Rhox homeobox family member 2	Homo sapiens (Human)	PR
O14813	PHOX2A	Paired mesoderm homeobox protein 2A	Homo sapiens (Human)	PR
P63013	Prrx1	Paired mesoderm homeobox protein 1	Mus musculus (Mouse)	PR
Q8VIH1	Nobox	Homeobox protein NOBOX	Mus musculus (Mouse)	PR
Q06348	Prrx2	Paired mesoderm homeobox protein 2	Mus musculus (Mouse)	PR
O88933	Esx1	Extraembryonic, spermatogenesis, homeobox 1 (Homeobox protein SPX1) (Homeodomain protein EPX)	Mus musculus (Mouse)	EV
Q9WUH2	Lhx9	LIM/homeobox protein Lhx9	Mus musculus (Mouse)	PR
Q80W90	Lhx9	LIM/homeobox protein Lhx9	Rattus norvegicus (Rat)	PR
P36198	Lhx2	LIM/homeobox protein Lhx2	Rattus norvegicus (Rat)	PR
Q7XUJ5	HOX22	Homeobox-leucine zipper protein HOX22	Oryza sativa subsp japonica (Rice)	PR
Q6H6S3	HOX24	Homeobox-leucine zipper protein HOX24	Oryza sativa subsp japonica (Rice)	PR
A3BYC1	HOX25	Homeobox-leucine zipper protein HOX25	Oryza sativa subsp japonica (Rice)	PR
Q9M276	ATHB-12	Homeobox-leucine zipper protein ATHB-12	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9FN29	ATHB-52	Homeobox-leucine zipper protein ATHB-52	Arabidopsis thaliana (Mouse-ear cress)	PR
Q28G02	siamois	Homeobox protein siamois	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR
Q566X8	dmbx1b	Diencephalon/mesencephalon homeobox protein 1-B	Danio rerio (Zebrafish) (Brachydanio rerio)	PR
Q1LWV4	lhx9	LIM/homeobox protein Lhx9	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MDPEHCAPFR	VGPAPGPYVA	SGDEPPGPQG	TPAAAPHLHP	APPRGPRLTR	FPACGPLEPY
70	80	90	100	110	120
LPEPAKPPAK	YLQDLGPGPA	LNGGHFYEGP	AEAEEKTSKA	ASFPQLPLDC	RGGPRDGPSN
130	140	150	160	170	180
LQGSPGPCLA	SLHLPLSPGL	PDSMELAKNK	SKKRRNRTTF	STFQLEELEK	VFQKTHYPDV
190	200	210	220	230	240
YAREQLALRT	DLTEARVQVW	FQNRRAKWRK	RERYGKIQEG	RNPFTAAYDI	SVLPRTDSHP
250	260	270	280	290	300
QLQNSLWASP	GSGSPGGPCL	VSPEGIPSPC	MSPYSHPHGS	VAGFMGVPAP	SAAHPGIYSI
310	320	330	340
HGFPPTLGGH	SFEPSSDGDY	KSPSLVSLRV	KPKEPPGLLN	WTT